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Volumn , Issue , 2014, Pages

Adrenal cortex and its disorders

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EID: 84901255684     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4557-4858-7.00022-6     Document Type: Chapter
Times cited : (41)

References (279)
  • 1
    • 84876095511 scopus 로고    scopus 로고
    • A brief history of adrenal research. Steroidogenesis-the soul of the adrenal
    • Miller W.L. A brief history of adrenal research. Steroidogenesis-the soul of the adrenal. Mol Cell Endocrinol 2013, 371:5-14.
    • (2013) Mol Cell Endocrinol , vol.371 , pp. 5-14
    • Miller, W.L.1
  • 2
    • 0024064517 scopus 로고
    • Molecular biology of steroid hormone synthesis
    • Miller W.L. Molecular biology of steroid hormone synthesis. Endocr Rev 1988, 9:295-318.
    • (1988) Endocr Rev , vol.9 , pp. 295-318
    • Miller, W.L.1
  • 3
    • 0023913120 scopus 로고
    • The steroid and thyroid hormone receptor superfamily
    • Evans R.M. The steroid and thyroid hormone receptor superfamily. Science 1988, 240:889-895.
    • (1988) Science , vol.240 , pp. 889-895
    • Evans, R.M.1
  • 4
    • 27844572373 scopus 로고    scopus 로고
    • Genetic analysis of adrenal absence. agenesis and aplasia
    • Else T., Hammer G.D. Genetic analysis of adrenal absence. agenesis and aplasia. Trends Endocrinol Metab 2005, 16:458-468.
    • (2005) Trends Endocrinol Metab , vol.16 , pp. 458-468
    • Else, T.1    Hammer, G.D.2
  • 5
    • 0030926557 scopus 로고    scopus 로고
    • Developmental and functional biology of the primate fetal adrenal cortex
    • Mesiano S., Jaffe R.B. Developmental and functional biology of the primate fetal adrenal cortex. Endocr Rev 1997, 18:378-403.
    • (1997) Endocr Rev , vol.18 , pp. 378-403
    • Mesiano, S.1    Jaffe, R.B.2
  • 6
    • 14244270348 scopus 로고    scopus 로고
    • Transcriptional regulation of adrenocortical development
    • Hammer G.D., Parker K.L., Schimmer B.P. Transcriptional regulation of adrenocortical development. Endocrinology 2005, 146:1018-1024.
    • (2005) Endocrinology , vol.146 , pp. 1018-1024
    • Hammer, G.D.1    Parker, K.L.2    Schimmer, B.P.3
  • 7
    • 65649085632 scopus 로고    scopus 로고
    • In search of adrenocortical stem and progenitor cells
    • Kim A.C., Barlaskar F.M., Heaton J.H., et al. In search of adrenocortical stem and progenitor cells. Endocr Rev 2009, 30:241-263.
    • (2009) Endocr Rev , vol.30 , pp. 241-263
    • Kim, A.C.1    Barlaskar, F.M.2    Heaton, J.H.3
  • 8
    • 0021244456 scopus 로고
    • Stress hormones. their interaction and regulation
    • Axelrod J., Reisine T.D. Stress hormones. their interaction and regulation. Science 1984, 224:452-459.
    • (1984) Science , vol.224 , pp. 452-459
    • Axelrod, J.1    Reisine, T.D.2
  • 9
    • 79951665862 scopus 로고    scopus 로고
    • The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders
    • Miller W.L., Auchus R.J. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 2011, 32:81-151.
    • (2011) Endocr Rev , vol.32 , pp. 81-151
    • Miller, W.L.1    Auchus, R.J.2
  • 10
    • 81855211988 scopus 로고    scopus 로고
    • Early steps in steroidogenesis. intracellular cholesterol trafficking
    • Miller W.L., Bose H.S. Early steps in steroidogenesis. intracellular cholesterol trafficking. J Lipid Res 2011, 52:2111-2135.
    • (2011) J Lipid Res , vol.52 , pp. 2111-2135
    • Miller, W.L.1    Bose, H.S.2
  • 11
    • 18844381164 scopus 로고    scopus 로고
    • Cellular redox state regulates hydroxysteroid dehydrogenase activity and intracellular hormone potency
    • Agarwal A.K., Auchus R.J. Cellular redox state regulates hydroxysteroid dehydrogenase activity and intracellular hormone potency. Endocrinology 2005, 146:2531-2538.
    • (2005) Endocrinology , vol.146 , pp. 2531-2538
    • Agarwal, A.K.1    Auchus, R.J.2
  • 12
    • 18844367746 scopus 로고    scopus 로고
    • Regulation of steroidogenesis by electron transfer
    • Miller W.L. Regulation of steroidogenesis by electron transfer. Endocrinology 2005, 146:2544-2550.
    • (2005) Endocrinology , vol.146 , pp. 2544-2550
    • Miller, W.L.1
  • 13
    • 0030047248 scopus 로고    scopus 로고
    • Regulation of the acute production of steroids in steroidogenic cells
    • Stocco D.M., Clark B.J. Regulation of the acute production of steroids in steroidogenic cells. Endocr Rev 1996, 17:221-244.
    • (1996) Endocr Rev , vol.17 , pp. 221-244
    • Stocco, D.M.1    Clark, B.J.2
  • 14
    • 33847235315 scopus 로고    scopus 로고
    • StAR search-what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import
    • Miller W.L. StAR search-what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import. Mol Endocrinol 2007, 21:589-601.
    • (2007) Mol Endocrinol , vol.21 , pp. 589-601
    • Miller, W.L.1
  • 15
    • 0028944669 scopus 로고
    • Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
    • Lin D., Sugawara T., Strauss J.F., et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995, 267:1828-1831.
    • (1995) Science , vol.267 , pp. 1828-1831
    • Lin, D.1    Sugawara, T.2    Strauss, J.F.3
  • 16
    • 0029855881 scopus 로고    scopus 로고
    • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
    • Bose H.S., Sugawara T., Strauss J.F., Miller W.L. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 1996, 335:1870-1878.
    • (1996) N Engl J Med , vol.335 , pp. 1870-1878
    • Bose, H.S.1    Sugawara, T.2    Strauss, J.F.3    Miller, W.L.4
  • 17
    • 0037007628 scopus 로고    scopus 로고
    • Rapid regulation of steroidogenesis by mitochondrial protein import
    • Bose H.S., Lingappa V.R., Miller W.L. Rapid regulation of steroidogenesis by mitochondrial protein import. Nature 2002, 417:87-91.
    • (2002) Nature , vol.417 , pp. 87-91
    • Bose, H.S.1    Lingappa, V.R.2    Miller, W.L.3
  • 20
    • 0032488666 scopus 로고    scopus 로고
    • Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer
    • Auchus R.J., Lee T.C., Miller W.L. Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer. J Biol Chem 1998, 273:3158-3165.
    • (1998) J Biol Chem , vol.273 , pp. 3158-3165
    • Auchus, R.J.1    Lee, T.C.2    Miller, W.L.3
  • 21
    • 84855500255 scopus 로고    scopus 로고
    • The syndrome of 17,20 lyase deficiency
    • Miller W.L. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab 2012, 97:59-67.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 59-67
    • Miller, W.L.1
  • 22
    • 77956588420 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. an Endocrine Society clinical practice guideline
    • Speiser P.W., Azziz R., Baskin L.S., et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010, 95:4133-4160.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 4133-4160
    • Speiser, P.W.1    Azziz, R.2    Baskin, L.S.3
  • 23
    • 0025935967 scopus 로고
    • Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Morel Y., Miller W.L. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991, 20:1-68.
    • (1991) Adv Hum Genet , vol.20 , pp. 1-68
    • Morel, Y.1    Miller, W.L.2
  • 24
    • 0042466547 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Speiser P.W., White P.C. Congenital adrenal hyperplasia. N Engl J Med 2003, 349:776-788.
    • (2003) N Engl J Med , vol.349 , pp. 776-788
    • Speiser, P.W.1    White, P.C.2
  • 25
    • 0024460383 scopus 로고
    • Extraadrenal steroid 21-hydroxylation is not mediated by P450c21
    • Mellon S.H., Miller W.L. Extraadrenal steroid 21-hydroxylation is not mediated by P450c21. J Clin Invest 1989, 84:1497-1502.
    • (1989) J Clin Invest , vol.84 , pp. 1497-1502
    • Mellon, S.H.1    Miller, W.L.2
  • 26
    • 0031260323 scopus 로고    scopus 로고
    • Progesterone and testosterone hydroxylation by cytochromes P450 2C19, 2C9, and 3A4 in human liver microsomes
    • Yamazaki H., Shimada T. Progesterone and testosterone hydroxylation by cytochromes P450 2C19, 2C9, and 3A4 in human liver microsomes. Arch Biochem Biophys 1997, 346:161-169.
    • (1997) Arch Biochem Biophys , vol.346 , pp. 161-169
    • Yamazaki, H.1    Shimada, T.2
  • 27
    • 58149385619 scopus 로고    scopus 로고
    • Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4. effect on 21-hydroxylase deficiency
    • Gomes L.G., Huang N., Agrawal V., et al. Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4. effect on 21-hydroxylase deficiency. J Clin Endocrinol Metab 2009, 94:89-95.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 89-95
    • Gomes, L.G.1    Huang, N.2    Agrawal, V.3
  • 28
    • 0028167769 scopus 로고
    • Disorders of steroid 11β-hydroxylase isozymes
    • White P.C., Curnow K.M., Pascoe L. Disorders of steroid 11β-hydroxylase isozymes. Endocr Rev 1994, 15:421-438.
    • (1994) Endocr Rev , vol.15 , pp. 421-438
    • White, P.C.1    Curnow, K.M.2    Pascoe, L.3
  • 29
    • 0029799269 scopus 로고    scopus 로고
    • Molecular biology of mineralocorticoid metabolism
    • Fardella C.E., Miller W.L. Molecular biology of mineralocorticoid metabolism. Annu Rev Nutr 1996, 16:443-470.
    • (1996) Annu Rev Nutr , vol.16 , pp. 443-470
    • Fardella, C.E.1    Miller, W.L.2
  • 30
    • 0031023049 scopus 로고    scopus 로고
    • The key role of 17β-hydroxysteroid dehydrogenases in sex steroid biology
    • Labrie F., Luu-The V., Lin S.X., et al. The key role of 17β-hydroxysteroid dehydrogenases in sex steroid biology. Steroids 1997, 62:148-158.
    • (1997) Steroids , vol.62 , pp. 148-158
    • Labrie, F.1    Luu-The, V.2    Lin, S.X.3
  • 31
    • 0030925341 scopus 로고    scopus 로고
    • Molecular endocrinology of hydroxysteroid dehydrogenases
    • Penning T.M. Molecular endocrinology of hydroxysteroid dehydrogenases. Endocr Rev 1997, 18:281-305.
    • (1997) Endocr Rev , vol.18 , pp. 281-305
    • Penning, T.M.1
  • 32
    • 0032171313 scopus 로고    scopus 로고
    • 17β-hydroxysteroid dehydrogenases. physiological roles in health and disease
    • Moghrabi N., Andersson S. 17β-hydroxysteroid dehydrogenases. physiological roles in health and disease. Trends Endocrinol Metab 1998, 9:265-270.
    • (1998) Trends Endocrinol Metab , vol.9 , pp. 265-270
    • Moghrabi, N.1    Andersson, S.2
  • 33
    • 0034287545 scopus 로고    scopus 로고
    • Human 3α-hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily. functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones
    • Penning T.M., Burczynski M.E., Jez J.M., et al. Human 3α-hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily. functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones. Biochem J 2000, 351:67-77.
    • (2000) Biochem J , vol.351 , pp. 67-77
    • Penning, T.M.1    Burczynski, M.E.2    Jez, J.M.3
  • 34
    • 66749138791 scopus 로고    scopus 로고
    • Type 5 17β-hydroxysteroid dehydrogenase (AKR1C3) contributes to testosterone production in the adrenal reticularis
    • Nakamura Y., Hornsby P.J., Casson P., et al. Type 5 17β-hydroxysteroid dehydrogenase (AKR1C3) contributes to testosterone production in the adrenal reticularis. J Clin Endocrinol Metab 2009, 94:2192-2198.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 2192-2198
    • Nakamura, Y.1    Hornsby, P.J.2    Casson, P.3
  • 35
    • 0030996250 scopus 로고    scopus 로고
    • Enzymology of human cytosolic sulfotransferases
    • Falany C.N. Enzymology of human cytosolic sulfotransferases. FASEB J 1997, 11:206-216.
    • (1997) FASEB J , vol.11 , pp. 206-216
    • Falany, C.N.1
  • 36
    • 0036796816 scopus 로고    scopus 로고
    • Sulfonation and molecular action
    • Strott C.A. Sulfonation and molecular action. Endocr Rev 2002, 23:703-732.
    • (2002) Endocr Rev , vol.23 , pp. 703-732
    • Strott, C.A.1
  • 37
    • 66249088642 scopus 로고    scopus 로고
    • Inactivating PAPSS2 mutations in a patient with premature pubarche
    • Noordam C., Dhir V., McNelis J.C., et al. Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med 2009, 360:2310-2318.
    • (2009) N Engl J Med , vol.360 , pp. 2310-2318
    • Noordam, C.1    Dhir, V.2    McNelis, J.C.3
  • 38
    • 0028332035 scopus 로고
    • Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis
    • Simpson E.R., Mahendroo M.S., Means G.D., et al. Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis. Endocr Rev 1994, 15:342-355.
    • (1994) Endocr Rev , vol.15 , pp. 342-355
    • Simpson, E.R.1    Mahendroo, M.S.2    Means, G.D.3
  • 39
    • 0033305733 scopus 로고    scopus 로고
    • Estrogen. consequences and implications of human mutations in synthesis and action
    • Grumbach M.M., Auchus R.J. Estrogen. consequences and implications of human mutations in synthesis and action. J Clin Endocrinol Metab 1999, 84:4677-4694.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4677-4694
    • Grumbach, M.M.1    Auchus, R.J.2
  • 40
    • 0027234897 scopus 로고
    • Tissue distribution and ontogeny of steroid 5a-reductase isozyme expression
    • Thigpen A.E., Silver R.I., Guileyardo J.M., et al. Tissue distribution and ontogeny of steroid 5a-reductase isozyme expression. J Clin Invest 1993, 92:903-910.
    • (1993) J Clin Invest , vol.92 , pp. 903-910
    • Thigpen, A.E.1    Silver, R.I.2    Guileyardo, J.M.3
  • 41
    • 0033304840 scopus 로고    scopus 로고
    • The role of androgens in male gender role behavior
    • Wilson J.D. The role of androgens in male gender role behavior. Endocr Rev 1999, 20:726-737.
    • (1999) Endocr Rev , vol.20 , pp. 726-737
    • Wilson, J.D.1
  • 42
    • 0031046241 scopus 로고    scopus 로고
    • 11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess
    • White P.C., Mune T., Agarwal A.K. 11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997, 18:135-156.
    • (1997) Endocr Rev , vol.18 , pp. 135-156
    • White, P.C.1    Mune, T.2    Agarwal, A.K.3
  • 43
    • 0041334187 scopus 로고    scopus 로고
    • 11β-hydroxysteroid dehydrogenase. unexpected connections
    • Walker E.A., Stewart P.M. 11β-hydroxysteroid dehydrogenase. unexpected connections. Trends Endocrinol Metab 2003, 14:334-339.
    • (2003) Trends Endocrinol Metab , vol.14 , pp. 334-339
    • Walker, E.A.1    Stewart, P.M.2
  • 44
    • 2342427536 scopus 로고    scopus 로고
    • Glucocorticoids and 11β-hydroxysteroid dehydrogenase in adipose tissue
    • Seckl J.R., Morton N.M., Chapman K.E., Walker B.R. Glucocorticoids and 11β-hydroxysteroid dehydrogenase in adipose tissue. Recent Prog Horm Res 2004, 59:359-393.
    • (2004) Recent Prog Horm Res , vol.59 , pp. 359-393
    • Seckl, J.R.1    Morton, N.M.2    Chapman, K.E.3    Walker, B.R.4
  • 45
    • 4043077286 scopus 로고    scopus 로고
    • 11β-hydroxysteroid dehydrogenase type 1. a tissue-specific regulator of glucocorticoid response
    • Tomlinson J.W., Walker E.A., Bujalska I.J., et al. 11β-hydroxysteroid dehydrogenase type 1. a tissue-specific regulator of glucocorticoid response. Endocr Rev 2004, 25:831-866.
    • (2004) Endocr Rev , vol.25 , pp. 831-866
    • Tomlinson, J.W.1    Walker, E.A.2    Bujalska, I.J.3
  • 46
    • 18844388999 scopus 로고    scopus 로고
    • Hexose-6-phosphate dehydrogenase and redox control of 11β-hydroxysteroid dehydrogenase type 1 activity
    • Hewitt K.N., Walker E.A., Stewart P.M. Hexose-6-phosphate dehydrogenase and redox control of 11β-hydroxysteroid dehydrogenase type 1 activity. Endocrinology 2005, 146:2539-2543.
    • (2005) Endocrinology , vol.146 , pp. 2539-2543
    • Hewitt, K.N.1    Walker, E.A.2    Stewart, P.M.3
  • 47
    • 7444233759 scopus 로고    scopus 로고
    • The backdoor pathway to dihydrotestosterone
    • Auchus R.J. The backdoor pathway to dihydrotestosterone. Trends Endocrinol Metab 2004, 15:432-438.
    • (2004) Trends Endocrinol Metab , vol.15 , pp. 432-438
    • Auchus, R.J.1
  • 48
    • 0037317265 scopus 로고    scopus 로고
    • 5α-androstane-3α,17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α,17α-diol-20-one as a key intermediate
    • Wilson J.D., Auchus R.J., Leihy M.W., et al. 5α-androstane-3α,17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α,17α-diol-20-one as a key intermediate. Endocrinology 2003, 144:575-580.
    • (2003) Endocrinology , vol.144 , pp. 575-580
    • Wilson, J.D.1    Auchus, R.J.2    Leihy, M.W.3
  • 49
    • 80051664435 scopus 로고    scopus 로고
    • Why boys will be boys. two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation
    • Fluck C.E., Meyer-Boni M., Pandey A.V., et al. Why boys will be boys. two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet 2011, 89:201-218.
    • (2011) Am J Hum Genet , vol.89 , pp. 201-218
    • Fluck, C.E.1    Meyer-Boni, M.2    Pandey, A.V.3
  • 50
    • 84858064955 scopus 로고    scopus 로고
    • Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency. evidence from urinary steroid hormone analysis
    • Kamrath C., Hochberg Z., Hartmann M.F., et al. Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency. evidence from urinary steroid hormone analysis. J Clin Endocrinol Metab 2012, 97:E367-E375.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Kamrath, C.1    Hochberg, Z.2    Hartmann, M.F.3
  • 51
    • 33645511061 scopus 로고    scopus 로고
    • In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development
    • Goto M., Piper Hanley K., Marcos J., et al. In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J Clin Invest 2006, 116:953-960.
    • (2006) J Clin Invest , vol.116 , pp. 953-960
    • Goto, M.1    Piper Hanley, K.2    Marcos, J.3
  • 52
    • 0031794582 scopus 로고    scopus 로고
    • Steroid hormone biosynthesis and actions in the materno-feto-placental unit
    • Miller W.L. Steroid hormone biosynthesis and actions in the materno-feto-placental unit. Clin Perinatol 1998, 25:799-817.
    • (1998) Clin Perinatol , vol.25 , pp. 799-817
    • Miller, W.L.1
  • 53
    • 75149124307 scopus 로고    scopus 로고
    • Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1)
    • McMahon S.K., Pretorius C.J., Ungerer J.P.J., et al. Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1). J Clin Endocrinol Metab 2010, 95:297-302.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 297-302
    • McMahon, S.K.1    Pretorius, C.J.2    Ungerer, J.P.J.3
  • 54
    • 0010322351 scopus 로고
    • Co-expression of corticotropin-releasing factor and vasopressin immunoreactivity in parvocellular neurosecretory neurons of the adrenalectomized rat
    • Sawchenko P.E., Swanson L.W., Vale W.W. Co-expression of corticotropin-releasing factor and vasopressin immunoreactivity in parvocellular neurosecretory neurons of the adrenalectomized rat. Proc Natl Acad Sci U S A 1984, 81:1883-1887.
    • (1984) Proc Natl Acad Sci U S A , vol.81 , pp. 1883-1887
    • Sawchenko, P.E.1    Swanson, L.W.2    Vale, W.W.3
  • 55
    • 0023955479 scopus 로고
    • Regulation of proopiomelanocortin gene expression in pituitary
    • Lundblad J.R., Roberts J.L. Regulation of proopiomelanocortin gene expression in pituitary. Endocr Rev 1988, 9:135-158.
    • (1988) Endocr Rev , vol.9 , pp. 135-158
    • Lundblad, J.R.1    Roberts, J.L.2
  • 56
    • 0032444041 scopus 로고    scopus 로고
    • Intraadrenal interactions in the regulation of adrenocortical steroidogenesis
    • Ehrhart-Bornstein M., Hinson J.P., Bornstein S.R., et al. Intraadrenal interactions in the regulation of adrenocortical steroidogenesis. Endocr Rev 1998, 19:101-143.
    • (1998) Endocr Rev , vol.19 , pp. 101-143
    • Ehrhart-Bornstein, M.1    Hinson, J.P.2    Bornstein, S.R.3
  • 57
    • 0031023186 scopus 로고    scopus 로고
    • Role of growth factors in the developmental regulation of the human fetal adrenal cortex
    • Mesiano S., Jaffe R.B. Role of growth factors in the developmental regulation of the human fetal adrenal cortex. Steroids 1997, 62:62-72.
    • (1997) Steroids , vol.62 , pp. 62-72
    • Mesiano, S.1    Jaffe, R.B.2
  • 58
    • 0023181872 scopus 로고
    • Responses of the hypothalamic-pituitary-adrenal and renin-angiotensin axes and the sympathetic system during controlled surgical and anesthetic stress
    • Udelsman R., Norton J.A., Jelenich S.E., et al. Responses of the hypothalamic-pituitary-adrenal and renin-angiotensin axes and the sympathetic system during controlled surgical and anesthetic stress. J Clin Endocrinol Metab 1987, 64:986-994.
    • (1987) J Clin Endocrinol Metab , vol.64 , pp. 986-994
    • Udelsman, R.1    Norton, J.A.2    Jelenich, S.E.3
  • 59
    • 84883711561 scopus 로고    scopus 로고
    • Cortisol response to operative stress with anesthesia in healthy children
    • Taylor L.K., Auchus R.J., Baskin L.S., Miller W.L. Cortisol response to operative stress with anesthesia in healthy children. J Clin Endocrinol Metab 2013, 98:3687-3693.
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 3687-3693
    • Taylor, L.K.1    Auchus, R.J.2    Baskin, L.S.3    Miller, W.L.4
  • 60
    • 0029037126 scopus 로고
    • The hypothalamic-pituitary-adrenal axis and immune-mediated inflammation
    • Chrousos G.P. The hypothalamic-pituitary-adrenal axis and immune-mediated inflammation. N Engl J Med 1995, 332:1351-1362.
    • (1995) N Engl J Med , vol.332 , pp. 1351-1362
    • Chrousos, G.P.1
  • 61
    • 0021707756 scopus 로고
    • Primary structure of the human renin gene
    • Hardman J.A., Hort Y.J., Catanzaro D.F., et al. Primary structure of the human renin gene. DNA 1984, 3:457-468.
    • (1984) DNA , vol.3 , pp. 457-468
    • Hardman, J.A.1    Hort, Y.J.2    Catanzaro, D.F.3
  • 62
    • 0024388311 scopus 로고
    • Role of calcium in angiotensin II-mediated aldosterone secretion
    • Barrett P.Q., Bollag W.B., Isales C.M., et al. Role of calcium in angiotensin II-mediated aldosterone secretion. Endocr Rev 1989, 10:496-518.
    • (1989) Endocr Rev , vol.10 , pp. 496-518
    • Barrett, P.Q.1    Bollag, W.B.2    Isales, C.M.3
  • 63
    • 0021181906 scopus 로고
    • Age changes and sex differences in serum dehydroepiandrosterone sulfate concentrations throughout adulthood
    • Orentreich N., Brind J.L., Rizer R.L., Vogelman J.H. Age changes and sex differences in serum dehydroepiandrosterone sulfate concentrations throughout adulthood. J Clin Endocrinol Metab 1984, 59:551-555.
    • (1984) J Clin Endocrinol Metab , vol.59 , pp. 551-555
    • Orentreich, N.1    Brind, J.L.2    Rizer, R.L.3    Vogelman, J.H.4
  • 64
    • 62449213811 scopus 로고    scopus 로고
    • Androgen synthesis in adrenarche
    • Miller W.L. Androgen synthesis in adrenarche. Rev Endocr Metab Disord 2009, 10:3-17.
    • (2009) Rev Endocr Metab Disord , vol.10 , pp. 3-17
    • Miller, W.L.1
  • 65
    • 70449405024 scopus 로고    scopus 로고
    • Development of the human adrenal zona reticularis. morphometric and immunohistochemical studies from birth to adolescence
    • Hui X.G., Akahira J., Suzuki T., et al. Development of the human adrenal zona reticularis. morphometric and immunohistochemical studies from birth to adolescence. J Endocrinol 2009, 203:241-252.
    • (2009) J Endocrinol , vol.203 , pp. 241-252
    • Hui, X.G.1    Akahira, J.2    Suzuki, T.3
  • 66
    • 84882299962 scopus 로고    scopus 로고
    • Phosphorylation of human cytochrome P450c17 by p38α selectively increases 17,20 lyase activity and androgen synthesis
    • Tee M.K., Miller W.L. Phosphorylation of human cytochrome P450c17 by p38α selectively increases 17,20 lyase activity and androgen synthesis. J Biol Chem 2013, 288:22903-23913.
    • (2013) J Biol Chem , vol.288 , pp. 22903-23913
    • Tee, M.K.1    Miller, W.L.2
  • 67
    • 70349921326 scopus 로고    scopus 로고
    • A systematic review and meta-analysis of randomized placebo-controlled trials of DHEA treatment effects on quality of life in women with adrenal insufficiency
    • Alkatib A.A., Cosma M., Elamin M.B., et al. A systematic review and meta-analysis of randomized placebo-controlled trials of DHEA treatment effects on quality of life in women with adrenal insufficiency. J Clin Endocrinol Metab 2009, 94:3676-3681.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3676-3681
    • Alkatib, A..A.1    Cosma, M.2    Elamin, M.B.3
  • 68
    • 0025273750 scopus 로고
    • Molecular properties of corticosteroid binding globulin and the sex-steroid binding proteins
    • Hammond G.L. Molecular properties of corticosteroid binding globulin and the sex-steroid binding proteins. Endocr Rev 1990, 11:65-79.
    • (1990) Endocr Rev , vol.11 , pp. 65-79
    • Hammond, G.L.1
  • 69
    • 0025343003 scopus 로고
    • The functions of corticosteroid-binding globulin and sex hormone-binding globulin. recent advances
    • Rosner W. The functions of corticosteroid-binding globulin and sex hormone-binding globulin. recent advances. Endocr Rev 1990, 11:80-91.
    • (1990) Endocr Rev , vol.11 , pp. 80-91
    • Rosner, W.1
  • 70
    • 0037369566 scopus 로고    scopus 로고
    • Adrenocortical activity in healthy children is associated with fat mass
    • Dimitriou T., Maser-Gluth C., Remer T. Adrenocortical activity in healthy children is associated with fat mass. Am J Clin Nutr 2003, 77:731-736.
    • (2003) Am J Clin Nutr , vol.77 , pp. 731-736
    • Dimitriou, T.1    Maser-Gluth, C.2    Remer, T.3
  • 71
    • 33646815978 scopus 로고    scopus 로고
    • Exaggerated adrenarche and altered cortisol metabolism in Type 1 diabetic children
    • Remer T., Maser-Gluth C., Boye K.R., et al. Exaggerated adrenarche and altered cortisol metabolism in Type 1 diabetic children. Steroids 2006, 71:591-598.
    • (2006) Steroids , vol.71 , pp. 591-598
    • Remer, T.1    Maser-Gluth, C.2    Boye, K.R.3
  • 72
    • 0027210603 scopus 로고
    • Estimation of daily cortisol production and clearance rates in normal pubertal males by deconvolution analysis
    • Kerrigan J.R., Veldhuis J.D., Leyo S.A., et al. Estimation of daily cortisol production and clearance rates in normal pubertal males by deconvolution analysis. J Clin Endocrinol Metab 1993, 76:1505-1510.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 1505-1510
    • Kerrigan, J.R.1    Veldhuis, J.D.2    Leyo, S.A.3
  • 73
    • 0025641380 scopus 로고
    • Cortisol production rate in childhood and adolescence
    • Linder B.L., Esteban N.V., Yergey A.L., et al. Cortisol production rate in childhood and adolescence. J Pediatr 1990, 117:892-896.
    • (1990) J Pediatr , vol.117 , pp. 892-896
    • Linder, B.L.1    Esteban, N.V.2    Yergey, A.L.3
  • 74
    • 0026059417 scopus 로고
    • Normative data for adrenal steroidogenesis in a healthy pediatric population. age- and sex-related changes after adrenocorticotropin stimulation
    • Lashansky G., Saenger P., Fishman K., et al. Normative data for adrenal steroidogenesis in a healthy pediatric population. age- and sex-related changes after adrenocorticotropin stimulation. J Clin Endocrinol Metab 1991, 73:674-686.
    • (1991) J Clin Endocrinol Metab , vol.73 , pp. 674-686
    • Lashansky, G.1    Saenger, P.2    Fishman, K.3
  • 75
    • 0032238826 scopus 로고    scopus 로고
    • Adrenocorticotropin insensitivity syndromes
    • Clark A.J., Weber A. Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998, 19:828-843.
    • (1998) Endocr Rev , vol.19 , pp. 828-843
    • Clark, A.J.1    Weber, A.2
  • 76
    • 0028587664 scopus 로고
    • The metyrapone and dexamethasone suppression tests for the differential diagnosis of the adrenocorticotropin-dependent Cushing syndrome. a comparison
    • Avgerinos P.C., Yanovski J.A., Oldfield E.H., et al. The metyrapone and dexamethasone suppression tests for the differential diagnosis of the adrenocorticotropin-dependent Cushing syndrome. a comparison. Ann Intern Med 1994, 121:318-327.
    • (1994) Ann Intern Med , vol.121 , pp. 318-327
    • Avgerinos, P.C.1    Yanovski, J.A.2    Oldfield, E.H.3
  • 77
    • 0031454319 scopus 로고    scopus 로고
    • Congenital lipoid adrenal hyperplasia. the human gene knockout for the steroidogenic acute regulatory protein
    • Miller W.L. Congenital lipoid adrenal hyperplasia. the human gene knockout for the steroidogenic acute regulatory protein. J Mol Endocrinol 1997, 19:227-240.
    • (1997) J Mol Endocrinol , vol.19 , pp. 227-240
    • Miller, W.L.1
  • 78
    • 14044251615 scopus 로고    scopus 로고
    • A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings
    • Chen X., Baker B.Y., Abduljabbar M.A., Miller W.L. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab 2005, 90:835-840.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 835-840
    • Chen, X.1    Baker, B.Y.2    Abduljabbar, M.A.3    Miller, W.L.4
  • 79
    • 0030955987 scopus 로고    scopus 로고
    • Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein
    • Bose H.S., Pescovitz O.H., Miller W.L. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. J Clin Endocrinol Metab 1997, 82:1511-1515.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1511-1515
    • Bose, H.S.1    Pescovitz, O.H.2    Miller, W.L.3
  • 80
    • 0030901671 scopus 로고    scopus 로고
    • Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene
    • Fujieda K., Tajima T., Nakae J., et al. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. J Clin Invest 1997, 99:1265-1271.
    • (1997) J Clin Invest , vol.99 , pp. 1265-1271
    • Fujieda, K.1    Tajima, T.2    Nakae, J.3
  • 81
    • 33845504474 scopus 로고    scopus 로고
    • Nonclassic congenital lipoid adrenal hyperplasia. a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia
    • Baker B.Y., Lin L., Kim C.J., et al. Nonclassic congenital lipoid adrenal hyperplasia. a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 2006, 91:4781-4785.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4781-4785
    • Baker, B.Y.1    Lin, L.2    Kim, C.J.3
  • 82
    • 70349921311 scopus 로고    scopus 로고
    • Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
    • Metherell L.A., Naville D., Halaby G., et al. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab 2009, 94:3865-3871.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3865-3871
    • Metherell, L.A.1    Naville, D.2    Halaby, G.3
  • 83
    • 77954924313 scopus 로고    scopus 로고
    • Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR)
    • Sahakitrungruang T., Soccio R.E., Lang-Muritano M., et al. Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). J Clin Endocrinol Metab 2010, 95:3352-3359.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 3352-3359
    • Sahakitrungruang, T.1    Soccio, R.E.2    Lang-Muritano, M.3
  • 84
    • 0034892068 scopus 로고    scopus 로고
    • Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency
    • Tajima T., Fujieda K., Kouda N., et al. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 2001, 86:3820-3825.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3820-3825
    • Tajima, T.1    Fujieda, K.2    Kouda, N.3
  • 85
    • 84873660583 scopus 로고    scopus 로고
    • Varied clinical presentations with mutations in CYP11A1 encoding the cholesterol side chain cleavage enzyme, P450scc
    • Tee M.K., Abramsohn M., Loewenthal N., et al. Varied clinical presentations with mutations in CYP11A1 encoding the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 2013, 98:713-720.
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 713-720
    • Tee, M.K.1    Abramsohn, M.2    Loewenthal, N.3
  • 86
    • 62349141316 scopus 로고    scopus 로고
    • A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient
    • Rubtsov P., Karmanov M., Sverdlova P., et al. A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. J Clin Endocrinol Metab 2009, 94:936-939.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 936-939
    • Rubtsov, P.1    Karmanov, M.2    Sverdlova, P.3
  • 87
    • 79952297375 scopus 로고    scopus 로고
    • Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia
    • Sahakitrungruang T., Tee M.K., Blackett P.R., Miller W.L. Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 2011, 96:792-798.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. 792-798
    • Sahakitrungruang, T.1    Tee, M.K.2    Blackett, P.R.3    Miller, W.L.4
  • 88
    • 0032990419 scopus 로고    scopus 로고
    • A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
    • Achermann J.C., Ito M., Hindmarsh P.C., Jameson J.L. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 1999, 22:125-126.
    • (1999) Nat Genet , vol.22 , pp. 125-126
    • Achermann, J.C.1    Ito, M.2    Hindmarsh, P.C.3    Jameson, J.L.4
  • 89
    • 84863571720 scopus 로고    scopus 로고
    • Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
    • Camats N., Pandey A.V., Fernandez-Cancio M., et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab 2012, 97:E1294-E1306.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Camats, N.1    Pandey, A.V.2    Fernandez-Cancio, M.3
  • 90
    • 0033305794 scopus 로고    scopus 로고
    • New insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency. identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes
    • Moisan A.M., Ricketts M.L., Tardy V., et al. New insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency. identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. J Clin Endocrinol Metab 1999, 84:4410-4425.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4410-4425
    • Moisan, A.M.1    Ricketts, M.L.2    Tardy, V.3
  • 91
    • 0022257349 scopus 로고
    • Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3β-hydroxysteroid dehydrogenase deficiency
    • Cara J.F., Moshang T., Bongiovanni A.M., Marx B.S. Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3β-hydroxysteroid dehydrogenase deficiency. N Engl J Med 1985, 313:618-621.
    • (1985) N Engl J Med , vol.313 , pp. 618-621
    • Cara, J.F.1    Moshang, T.2    Bongiovanni, A.M.3    Marx, B.S.4
  • 92
    • 0037337908 scopus 로고    scopus 로고
    • Carriers for type II 3b-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test
    • Pang S., Carbunaru G., Haider A., et al. Carriers for type II 3b-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test. Clin Endocrinol (Oxf) 2003, 58:323-331.
    • (2003) Clin Endocrinol (Oxf) , vol.58 , pp. 323-331
    • Pang, S.1    Carbunaru, G.2    Haider, A.3
  • 93
    • 0031969057 scopus 로고    scopus 로고
    • The molecular and clinical spectrum of 3β-hydroxysteroid dehydrogenase deficiency disorder
    • Pang S. The molecular and clinical spectrum of 3β-hydroxysteroid dehydrogenase deficiency disorder. Trends Endocrinol Metab 1998, 9:82-86.
    • (1998) Trends Endocrinol Metab , vol.9 , pp. 82-86
    • Pang, S.1
  • 94
    • 15944371891 scopus 로고    scopus 로고
    • Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping
    • Mermejo L.M., Elias L.L., Marui S., et al. Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. J Clin Endocrinol Metab 2005, 90:1287-1293.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1287-1293
    • Mermejo, L.M.1    Elias, L.L.2    Marui, S.3
  • 95
    • 0035032081 scopus 로고    scopus 로고
    • The genetics, pathophysiology, and management of human deficiencies of P450c17
    • Auchus R.J. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am 2001, 30:101-119.
    • (2001) Endocrinol Metab Clin North Am , vol.30 , pp. 101-119
    • Auchus, R.J.1
  • 96
    • 0842291524 scopus 로고    scopus 로고
    • Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency
    • Costa-Santos M., Kater C.E., Auchus R.J. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004, 89:49-60.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 49-60
    • Costa-Santos, M.1    Kater, C.E.2    Auchus, R.J.3
  • 97
    • 0031252385 scopus 로고    scopus 로고
    • The genetic and functional basis of isolated 17,20-lyase deficiency
    • Geller D.H., Auchus R.J., Mendonca B.B., Miller W.L. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet 1997, 17:201-205.
    • (1997) Nat Genet , vol.17 , pp. 201-205
    • Geller, D.H.1    Auchus, R.J.2    Mendonca, B.B.3    Miller, W.L.4
  • 98
    • 0033346398 scopus 로고    scopus 로고
    • Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase). insights into reaction mechanisms and effects of mutations
    • Auchus R.J., Miller W.L. Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase). insights into reaction mechanisms and effects of mutations. Mol Endocrinol 1999, 13:1169-1182.
    • (1999) Mol Endocrinol , vol.13 , pp. 1169-1182
    • Auchus, R.J.1    Miller, W.L.2
  • 99
    • 10744224515 scopus 로고    scopus 로고
    • Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
    • Fluck C.E., Tajima T., Pandey A.V., et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 2004, 36:228-230.
    • (2004) Nat Genet , vol.36 , pp. 228-230
    • Fluck, C.E.1    Tajima, T.2    Pandey, A.V.3
  • 100
    • 20244367932 scopus 로고    scopus 로고
    • Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
    • Huang N., Pandey A.V., Agrawal V., et al. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 2005, 76:729-749.
    • (2005) Am J Hum Genet , vol.76 , pp. 729-749
    • Huang, N.1    Pandey, A.V.2    Agrawal, V.3
  • 101
    • 19944429961 scopus 로고    scopus 로고
    • Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis. molecular and clinical studies in 10 patients
    • Fukami M., Horikawa R., Nagai T., et al. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis. molecular and clinical studies in 10 patients. J Clin Endocrinol Metab 2005, 90:414-426.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 414-426
    • Fukami, M.1    Horikawa, R.2    Nagai, T.3
  • 102
    • 43749123253 scopus 로고    scopus 로고
    • Genetic and clinical features of P450 oxidoreductase deficiency
    • Scott R.R., Miller W.L. Genetic and clinical features of P450 oxidoreductase deficiency. Horm Res 2008, 69:266-275.
    • (2008) Horm Res , vol.69 , pp. 266-275
    • Scott, R.R.1    Miller, W.L.2
  • 103
    • 84863045235 scopus 로고    scopus 로고
    • Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    • Krone N., Reisch N., Idkowiak J., et al. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab 2012, 97:E257-E267.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Krone, N.1    Reisch, N.2    Idkowiak, J.3
  • 104
    • 4344591415 scopus 로고    scopus 로고
    • Prenatal diagnosis of P450 oxidoreductase deficiency (ORD). a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype
    • Shackleton C., Marcos J., Arlt W., & Hauffa B.P. Prenatal diagnosis of P450 oxidoreductase deficiency (ORD). a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. Am J Med Genet A 2004, 129A:105-112.
    • (2004) Am J Med Genet A , vol.129 A , pp. 105-112
    • Shackleton, C.1    Marcos, J.2    Arlt, W.3    Hauffa, B.P.4
  • 105
    • 80955134239 scopus 로고    scopus 로고
    • Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid
    • Laue K., Pogoda H.M., Daniel P.B., et al. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet 2011, 89:595-606.
    • (2011) Am J Hum Genet , vol.89 , pp. 595-606
    • Laue, K.1    Pogoda, H.M.2    Daniel, P.B.3
  • 106
    • 79952068290 scopus 로고    scopus 로고
    • Consequences of POR mutations and polymorphisms
    • Miller W.L., Agrawal V., Sandee D., et al. Consequences of POR mutations and polymorphisms. Mol Cell Endocrinol 2011, 336:174-179.
    • (2011) Mol Cell Endocrinol , vol.336 , pp. 174-179
    • Miller, W.L.1    Agrawal, V.2    Sandee, D.3
  • 107
    • 78649891177 scopus 로고    scopus 로고
    • Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    • Tomalik-Scharte D., Maiter D., Kirchheiner J., et al. Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. Eur J Endocrinol 2010, 163:919-924.
    • (2010) Eur J Endocrinol , vol.163 , pp. 919-924
    • Tomalik-Scharte, D.1    Maiter, D.2    Kirchheiner, J.3
  • 108
    • 0028197434 scopus 로고
    • A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism
    • Giordano S.J., Kaftory A., Steggles A.W. A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. Hum Genet 1994, 93:568-570.
    • (1994) Hum Genet , vol.93 , pp. 568-570
    • Giordano, S.J.1    Kaftory, A.2    Steggles, A.W.3
  • 109
    • 77749237282 scopus 로고    scopus 로고
    • Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X
    • Kok R.C., Timmerman M.A., Wolffenbuttel K.P., et al. Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. J Clin Endocrinol Metab 2010, 95:994-999.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 994-999
    • Kok, R.C.1    Timmerman, M.A.2    Wolffenbuttel, K.P.3
  • 110
    • 84858051763 scopus 로고    scopus 로고
    • A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency
    • Idkowiak J., Randell T., Dhir V., et al. A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. J Clin Endocrinol Metab 2012, 97:E465-E475.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Idkowiak, J.1    Randell, T.2    Dhir, V.3
  • 111
    • 2642620230 scopus 로고    scopus 로고
    • Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
    • Therrell B.L., Berenbaum S.A., Manter-Kapanke V., et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998, 101:583-590.
    • (1998) Pediatrics , vol.101 , pp. 583-590
    • Therrell, B.L.1    Berenbaum, S.A.2    Manter-Kapanke, V.3
  • 112
    • 84860741422 scopus 로고    scopus 로고
    • Nonclassic congenital adrenal hyperplasia
    • Witchel S.F. Nonclassic congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes 2012, 19:151-158.
    • (2012) Curr Opin Endocrinol Diabetes Obes , vol.19 , pp. 151-158
    • Witchel, S.F.1
  • 113
    • 0033621465 scopus 로고    scopus 로고
    • Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene
    • Wijesuriya S.D., Zhang G., Dardis A., Miller W.L. Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene. J Biol Chem 1999, 274:38097-38106.
    • (1999) J Biol Chem , vol.274 , pp. 38097-38106
    • Wijesuriya, S.D.1    Zhang, G.2    Dardis, A.3    Miller, W.L.4
  • 114
    • 0032553295 scopus 로고    scopus 로고
    • The G11 gene located in the major histocompatibility complex encodes a novel nuclear serine/threonine protein kinase
    • Gomez-Escobar N., Chou C.F., Lin W.W., et al. The G11 gene located in the major histocompatibility complex encodes a novel nuclear serine/threonine protein kinase. J Biol Chem 1998, 273:30954-30960.
    • (1998) J Biol Chem , vol.273 , pp. 30954-30960
    • Gomez-Escobar, N.1    Chou, C.F.2    Lin, W.W.3
  • 115
    • 0027231385 scopus 로고
    • Tenascin-X. a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
    • Bristow J., Tee M.K., Gitelman S.E., et al. Tenascin-X. a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 1993, 122:265-278.
    • (1993) J Cell Biol , vol.122 , pp. 265-278
    • Bristow, J.1    Tee, M.K.2    Gitelman, S.E.3
  • 116
    • 0030843025 scopus 로고    scopus 로고
    • Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
    • Burch G.H., Gong Y., Liu W., et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 1997, 17:104-108.
    • (1997) Nat Genet , vol.17 , pp. 104-108
    • Burch, G.H.1    Gong, Y.2    Liu, W.3
  • 117
    • 0035909658 scopus 로고    scopus 로고
    • A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
    • Schalkwijk J., Zweers M.C., Steijlen P.M., et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 2001, 345:1167-1175.
    • (2001) N Engl J Med , vol.345 , pp. 1167-1175
    • Schalkwijk, J.1    Zweers, M.C.2    Steijlen, P.M.3
  • 118
    • 0032832404 scopus 로고    scopus 로고
    • Dexamethasone treatment of congenital adrenal hyperplasia in utero. an experimental therapy of unproven safety
    • Miller W.L. Dexamethasone treatment of congenital adrenal hyperplasia in utero. an experimental therapy of unproven safety. J Urol 1999, 162:537-540.
    • (1999) J Urol , vol.162 , pp. 537-540
    • Miller, W.L.1
  • 119
    • 84876695205 scopus 로고    scopus 로고
    • Prenatal treatment of congenital adrenal hyperplasia. Risks outweigh benefits
    • Miller W.L., Witchel S.F. Prenatal treatment of congenital adrenal hyperplasia. Risks outweigh benefits. Am J Obstet Gynecol 2013, 208:354-359.
    • (2013) Am J Obstet Gynecol , vol.208 , pp. 354-359
    • Miller, W.L.1    Witchel, S.F.2
  • 120
    • 0025723923 scopus 로고
    • The steroid hormonal milieu of the undisturbed human fetus and mother at 16-20 weeks gestation
    • Partsch C.J., Sippell W.G., MacKenzie I.Z., Aynsley-Green A. The steroid hormonal milieu of the undisturbed human fetus and mother at 16-20 weeks gestation. J Clin Endocrinol Metab 1991, 73:969-974.
    • (1991) J Clin Endocrinol Metab , vol.73 , pp. 969-974
    • Partsch, C.J.1    Sippell, W.G.2    MacKenzie, I.Z.3    Aynsley-Green, A.4
  • 121
    • 0029996891 scopus 로고    scopus 로고
    • Serum cortisol, dehydroepiandrosterone sulfate, and steroid-binding globulins in preterm neonates. effect of gestational age and dexamethasone therapy
    • Kari M.A., Raivio K.O., Stenman U.H., Voutilainen R. Serum cortisol, dehydroepiandrosterone sulfate, and steroid-binding globulins in preterm neonates. effect of gestational age and dexamethasone therapy. Pediatr Res 1996, 40:319-324.
    • (1996) Pediatr Res , vol.40 , pp. 319-324
    • Kari, M.A.1    Raivio, K.O.2    Stenman, U.H.3    Voutilainen, R.4
  • 122
    • 84864540527 scopus 로고    scopus 로고
    • Prenatal treatment of congenital adrenal hyperplasia-not standard of care
    • Witchel S.F., Miller W.L. Prenatal treatment of congenital adrenal hyperplasia-not standard of care. J Genet Couns 2012, 21:615-624.
    • (2012) J Genet Couns , vol.21 , pp. 615-624
    • Witchel, S.F.1    Miller, W.L.2
  • 123
    • 33846978755 scopus 로고    scopus 로고
    • Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone
    • Hirvikoski T., Nordenstrom A., Lindholm T., et al. Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone. J Clin Endocrinol Metab 2007, 92:542-548.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 542-548
    • Hirvikoski, T.1    Nordenstrom, A.2    Lindholm, T.3
  • 124
    • 53249103687 scopus 로고    scopus 로고
    • Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia. does dexamethasone cause behavioural problems
    • Hirvikoski T., Nordenstrom A., Lindholm T., et al. Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia. does dexamethasone cause behavioural problems. Eur J Endocrinol 2008, 159:309-316.
    • (2008) Eur J Endocrinol , vol.159 , pp. 309-316
    • Hirvikoski, T.1    Nordenstrom, A.2    Lindholm, T.3
  • 125
    • 80051879901 scopus 로고    scopus 로고
    • Gender role behaviour in prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia. a pilot study
    • Hirvikoski T., Lindholm T., Lajic S., Nordenstrom A. Gender role behaviour in prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia. a pilot study. Acta Paediatr 2011, 100:e112-e119.
    • (2011) Acta Paediatr , vol.100
    • Hirvikoski, T.1    Lindholm, T.2    Lajic, S.3    Nordenstrom, A.4
  • 126
    • 84864914283 scopus 로고    scopus 로고
    • Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia. the Swedish experience and standpoint
    • Hirvikoski T., Nordenstrom A., Wedell A., et al. Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia. the Swedish experience and standpoint. J Clin Endocrinol Metab 2012, 97:1881-1883.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 1881-1883
    • Hirvikoski, T.1    Nordenstrom, A.2    Wedell, A.3
  • 127
    • 78049477873 scopus 로고    scopus 로고
    • Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency in a Moroccan population
    • Chabraoui L., Abid F., Menassa R., et al. Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency in a Moroccan population. Horm Res Paediatr 2010, 74:182-189.
    • (2010) Horm Res Paediatr , vol.74 , pp. 182-189
    • Chabraoui, L.1    Abid, F.2    Menassa, R.3
  • 128
    • 76149126092 scopus 로고    scopus 로고
    • Functional consequences of seven novel mutations in the CYP11B1 gene. four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
    • Parajes S., Loidi L., Reisch N., et al. Functional consequences of seven novel mutations in the CYP11B1 gene. four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency. J Clin Endocrinol Metab 2010, 95:779-788.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 779-788
    • Parajes, S.1    Loidi, L.2    Reisch, N.3
  • 129
    • 0030732003 scopus 로고    scopus 로고
    • CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11β-hydroxylase deficiency
    • Joehrer K., Geley S., Strasser-Wozak E.M., et al. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11β-hydroxylase deficiency. Hum Mol Genet 1997, 6:1829-1834.
    • (1997) Hum Mol Genet , vol.6 , pp. 1829-1834
    • Joehrer, K.1    Geley, S.2    Strasser-Wozak, E.M.3
  • 130
    • 0026771282 scopus 로고
    • Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
    • Pascoe L., Curnow K.M., Slutsker L., et al. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci U S A 1992, 89:4996-5000.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 4996-5000
    • Pascoe, L.1    Curnow, K.M.2    Slutsker, L.3
  • 131
    • 0033305595 scopus 로고    scopus 로고
    • Glucocorticoid-remediable aldosteronism
    • Dluhy R.G., Lifton R.P. Glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1999, 84:4341-4344.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4341-4344
    • Dluhy, R.G.1    Lifton, R.P.2
  • 132
    • 17744390208 scopus 로고    scopus 로고
    • Primary hyperaldosteronism in essential hypertensives. prevalence, biochemical profile, and molecular biology
    • Fardella C.E., Mosso L., Gomez-Sanchez C., et al. Primary hyperaldosteronism in essential hypertensives. prevalence, biochemical profile, and molecular biology. J Clin Endocrinol Metab 2000, 85:1863-1867.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1863-1867
    • Fardella, C.E.1    Mosso, L.2    Gomez-Sanchez, C.3
  • 133
    • 84863653827 scopus 로고    scopus 로고
    • Is there sufficient evidence to consider the use of 11β-hydroxysteroid dehydrogenase type 1 inhibition in children
    • Furst-Recktenwald S., Dorr H.G., Quinkler M., et al. Is there sufficient evidence to consider the use of 11β-hydroxysteroid dehydrogenase type 1 inhibition in children. Clin Endocrinol (Oxf) 2012, 77:159-168.
    • (2012) Clin Endocrinol (Oxf) , vol.77 , pp. 159-168
    • Furst-Recktenwald, S.1    Dorr, H.G.2    Quinkler, M.3
  • 134
    • 79952763771 scopus 로고    scopus 로고
    • Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1
    • Lawson A.J., Walker E.A., Lavery G.G., et al. Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1. Proc Natl Acad Sci U S A 2011, 108:4111-4116.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 4111-4116
    • Lawson, A.J.1    Walker, E.A.2    Lavery, G.G.3
  • 135
    • 53749101646 scopus 로고    scopus 로고
    • Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency
    • Lavery G.G., Walker E.A., Tiganescu A., et al. Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. J Clin Endocrinol Metab 2008, 93:3827-3832.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3827-3832
    • Lavery, G.G.1    Walker, E.A.2    Tiganescu, A.3
  • 136
    • 0042667127 scopus 로고    scopus 로고
    • Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
    • Draper N., Walker E.A., Bujalska I.J., et al. Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet 2003, 34:434-439.
    • (2003) Nat Genet , vol.34 , pp. 434-439
    • Draper, N.1    Walker, E.A.2    Bujalska, I.J.3
  • 137
    • 23044516980 scopus 로고    scopus 로고
    • A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11β-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome
    • San Millan J.L., Botella-Carretero J.I., Alvarez-Blasco F., et al. A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11β-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. J Clin Endocrinol Metab 2005, 90:4157-4162.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4157-4162
    • San Millan, J.L.1    Botella-Carretero, J.I.2    Alvarez-Blasco, F.3
  • 138
    • 26244456538 scopus 로고    scopus 로고
    • Genotypes at 11β-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample
    • White P.C. Genotypes at 11β-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. J Clin Endocrinol Metab 2005, 90:5880-5883.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5880-5883
    • White, P.C.1
  • 139
    • 0038306946 scopus 로고    scopus 로고
    • Hypertension and the cortisol-cortisone shuttle
    • Quinkler M., Stewart P.M. Hypertension and the cortisol-cortisone shuttle. J Clin Endocrinol Metab 2003, 88:2384-2392.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 2384-2392
    • Quinkler, M.1    Stewart, P.M.2
  • 141
    • 21244480582 scopus 로고    scopus 로고
    • Primary adrenal insufficiency in children. twenty years experience at the Sainte-Justine Hospital, Montreal
    • Perry R., Kecha O., Paquette J., et al. Primary adrenal insufficiency in children. twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab 2005, 90:3243-3250.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 3243-3250
    • Perry, R.1    Kecha, O.2    Paquette, J.3
  • 142
    • 33747644339 scopus 로고    scopus 로고
    • Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure. ten years' experience
    • Lin L., Gu W.X., Ozisik G., et al. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure. ten years' experience. J Clin Endocrinol Metab 2006, 91:3048-3054.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3048-3054
    • Lin, L.1    Gu, W.X.2    Ozisik, G.3
  • 143
    • 2442696385 scopus 로고    scopus 로고
    • Inherited adrenal hypoplasia. not just for kids
    • Lin L., Achermann J.C. Inherited adrenal hypoplasia. not just for kids. Clin Endocrinol (Oxf) 2004, 60:529-537.
    • (2004) Clin Endocrinol (Oxf) , vol.60 , pp. 529-537
    • Lin, L.1    Achermann, J.C.2
  • 144
    • 25144473101 scopus 로고    scopus 로고
    • Staphylococcus aureus sepsis and the Waterhouse-Friderichsen syndrome in children
    • Adem P.V., Montgomery C.P., Husain A.N., et al. Staphylococcus aureus sepsis and the Waterhouse-Friderichsen syndrome in children. N Engl J Med 2005, 353:1245-1251.
    • (2005) N Engl J Med , vol.353 , pp. 1245-1251
    • Adem, P.V.1    Montgomery, C.P.2    Husain, A.N.3
  • 145
    • 85047684725 scopus 로고    scopus 로고
    • Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes. autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction
    • Betterle C., Dal Pra C., Mantero F., Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes. autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 2002, 23:327-364.
    • (2002) Endocr Rev , vol.23 , pp. 327-364
    • Betterle, C.1    Dal Pra, C.2    Mantero, F.3    Zanchetta, R.4
  • 146
    • 0037648405 scopus 로고    scopus 로고
    • Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    • Ueda H., Howson J.M., Esposito L., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003, 423:506-511.
    • (2003) Nature , vol.423 , pp. 506-511
    • Ueda, H.1    Howson, J.M.2    Esposito, L.3
  • 147
    • 33749540401 scopus 로고    scopus 로고
    • MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency
    • Ghaderi M., Gambelunghe G., Tortoioli C., et al. MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency. J Clin Endocrinol Metab 2006, 91:4107-4111.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4107-4111
    • Ghaderi, M.1    Gambelunghe, G.2    Tortoioli, C.3
  • 148
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006, 91:2843-2850.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2843-2850
    • Perheentupa, J.1
  • 149
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Finnish-German A.C. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997, 17:399-403.
    • (1997) Nat Genet , vol.17 , pp. 399-403
    • Finnish-German, A.C.1
  • 150
    • 16944367194 scopus 로고    scopus 로고
    • Positional cloning of the APECED gene
    • Nagamine K., Peterson P., Scott H.S., et al. Positional cloning of the APECED gene. Nat Genet 1997, 17:393-398.
    • (1997) Nat Genet , vol.17 , pp. 393-398
    • Nagamine, K.1    Peterson, P.2    Scott, H.S.3
  • 151
    • 16244367143 scopus 로고    scopus 로고
    • AIRE and APECED. molecular insights into an autoimmune disease
    • Villasenor J., Benoist C., Mathis D. AIRE and APECED. molecular insights into an autoimmune disease. Immunol Rev 2005, 204:156-164.
    • (2005) Immunol Rev , vol.204 , pp. 156-164
    • Villasenor, J.1    Benoist, C.2    Mathis, D.3
  • 152
    • 0033960595 scopus 로고    scopus 로고
    • A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
    • Tabarin A., Achermann J.C., Recan D., et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 2000, 105:321-328.
    • (2000) J Clin Invest , vol.105 , pp. 321-328
    • Tabarin, A.1    Achermann, J.C.2    Recan, D.3
  • 153
    • 0033304828 scopus 로고    scopus 로고
    • IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
    • Vilain E., Le Merrer M., Lecointre C., et al. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999, 84:4335-4340.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4335-4340
    • Vilain, E.1    Le Merrer, M.2    Lecointre, C.3
  • 154
    • 21244505473 scopus 로고    scopus 로고
    • Familial occurrence of the IMAGe association. additional clinical variants and a proposed mode of inheritance
    • Bergada I., Del Rey G., Lapunzina P., et al. Familial occurrence of the IMAGe association. additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab 2005, 90:3186-3190.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 3186-3190
    • Bergada, I.1    Del Rey, G.2    Lapunzina, P.3
  • 155
    • 84862992962 scopus 로고    scopus 로고
    • Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    • Arboleda A.V., Lee H., Parnaik R., et al. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet 2012, 44:788-792.
    • (2012) Nat Genet , vol.44 , pp. 788-792
    • Arboleda, A.V.1    Lee, H.2    Parnaik, R.3
  • 156
    • 16044364516 scopus 로고    scopus 로고
    • An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
    • Hatada I., Ohashi H., Fukushima Y., et al. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 1996, 14:171-173.
    • (1996) Nat Genet , vol.14 , pp. 171-173
    • Hatada, I.1    Ohashi, H.2    Fukushima, Y.3
  • 158
    • 77249089273 scopus 로고    scopus 로고
    • The melanocortin 2 receptor accessory proteins
    • Webb T.R., Clark A.J.L. The melanocortin 2 receptor accessory proteins. Mol Endocrinol 2010, 24:475-484.
    • (2010) Mol Endocrinol , vol.24 , pp. 475-484
    • Webb, T.R.1    Clark, A.J.L.2
  • 159
    • 13944270307 scopus 로고    scopus 로고
    • Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
    • Metherell L.A., Chapple J.P., Cooray S., et al. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005, 37:166-170.
    • (2005) Nat Genet , vol.37 , pp. 166-170
    • Metherell, L.A.1    Chapple, J.P.2    Cooray, S.3
  • 160
    • 84863003306 scopus 로고    scopus 로고
    • Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
    • Meimaridou E., Kowalczyk J., Guasti L., et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet 2012, 44:740-742.
    • (2012) Nat Genet , vol.44 , pp. 740-742
    • Meimaridou, E.1    Kowalczyk, J.2    Guasti, L.3
  • 161
    • 84857875264 scopus 로고    scopus 로고
    • MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
    • Hughes C.R., Guasti L., Meimaridou E., et al. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest 2012, 122:814-820.
    • (2012) J Clin Invest , vol.122 , pp. 814-820
    • Hughes, C.R.1    Guasti, L.2    Meimaridou, E.3
  • 162
    • 0033763096 scopus 로고    scopus 로고
    • Mutant WD-repeat protein in triple-A syndrome
    • Tullio-Pelet A., Salomon R., Hadj-Rabia S., et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000, 26:332-335.
    • (2000) Nat Genet , vol.26 , pp. 332-335
    • Tullio-Pelet, A.1    Salomon, R.2    Hadj-Rabia, S.3
  • 163
    • 0035253397 scopus 로고    scopus 로고
    • Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
    • Handschug K., Sperling S., Yoon S.J., et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001, 10:283-290.
    • (2001) Hum Mol Genet , vol.10 , pp. 283-290
    • Handschug, K.1    Sperling, S.2    Yoon, S.J.3
  • 164
    • 73249122503 scopus 로고    scopus 로고
    • Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism
    • Storr H.L., Kind B., Parfitt D.A., et al. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol 2009, 23:2086-2094.
    • (2009) Mol Endocrinol , vol.23 , pp. 2086-2094
    • Storr, H.L.1    Kind, B.2    Parfitt, D.A.3
  • 165
    • 0028890665 scopus 로고
    • Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
    • Ligtenberg M.J., Kemp S., Sarde C.O., et al. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 1995, 56:44-50.
    • (1995) Am J Hum Genet , vol.56 , pp. 44-50
    • Ligtenberg, M.J.1    Kemp, S.2    Sarde, C.O.3
  • 166
    • 0029074454 scopus 로고
    • Altered expression of ALDP in X-linked adrenoleukodystrophy
    • Watkins P.A., Gould S.J., Smith M.A., et al. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 1995, 57:292-301.
    • (1995) Am J Hum Genet , vol.57 , pp. 292-301
    • Watkins, P.A.1    Gould, S.J.2    Smith, M.A.3
  • 167
    • 80051475306 scopus 로고    scopus 로고
    • Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases
    • Shimozawa N. Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases. Brain Dev 2011, 33:770-776.
    • (2011) Brain Dev , vol.33 , pp. 770-776
    • Shimozawa, N.1
  • 168
    • 29544446329 scopus 로고    scopus 로고
    • Adrenoleukodystrophy. new approaches to a neurodegenerative disease
    • Moser H.W., Raymond G.V., Dubey P. Adrenoleukodystrophy. new approaches to a neurodegenerative disease. JAMA 2005, 294:3131-3134.
    • (2005) JAMA , vol.294 , pp. 3131-3134
    • Moser, H.W.1    Raymond, G.V.2    Dubey, P.3
  • 169
    • 0037219061 scopus 로고    scopus 로고
    • Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy
    • McGuinness M.C., Lu J.F., Zhang H.P., et al. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol Cell Biol 2003, 23:744-753.
    • (2003) Mol Cell Biol , vol.23 , pp. 744-753
    • McGuinness, M.C.1    Lu, J.F.2    Zhang, H.P.3
  • 170
    • 33846942956 scopus 로고    scopus 로고
    • X-linked adrenoleukodystrophy. very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
    • Kemp S., Wanders R.J. X-linked adrenoleukodystrophy. very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. Mol Genet Metab 2007, 90:268-276.
    • (2007) Mol Genet Metab , vol.90 , pp. 268-276
    • Kemp, S.1    Wanders, R.J.2
  • 171
    • 0023201793 scopus 로고
    • Adrenoleukodystrophy. biochemical procedures in diagnosis, prevention and treatment
    • Watkins P.A., Naidu S., Moser H.W. Adrenoleukodystrophy. biochemical procedures in diagnosis, prevention and treatment. J Inherit Metab Dis 1987, 10(Suppl. 1):46-53.
    • (1987) J Inherit Metab Dis , vol.10 , Issue.SUPPL. 1 , pp. 46-53
    • Watkins, P.A.1    Naidu, S.2    Moser, H.W.3
  • 172
    • 0021712568 scopus 로고
    • Adrenoleukodystrophy. survey of 303 casesbiochemistry, diagnosis, and therapy
    • Moser H.W., Moser A.E., Singh I., O'Neill B.P. Adrenoleukodystrophy. survey of 303 casesbiochemistry, diagnosis, and therapy. Ann Neurol 1984, 16:628-641.
    • (1984) Ann Neurol , vol.16 , pp. 628-641
    • Moser, H.W.1    Moser, A.E.2    Singh, I.3    O'Neill, B.P.4
  • 173
    • 0029034179 scopus 로고
    • Adrenoleukodystrophy
    • Moser H.W. Adrenoleukodystrophy. Curr Opin Neurol 1995, 8:221-226.
    • (1995) Curr Opin Neurol , vol.8 , pp. 221-226
    • Moser, H.W.1
  • 174
    • 0030024842 scopus 로고    scopus 로고
    • X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients
    • Laureti S., Casucci G., Santeusanio F., et al. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. J Clin Endocrinol Metab 1996, 81:470-474.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 470-474
    • Laureti, S.1    Casucci, G.2    Santeusanio, F.3
  • 175
    • 0025177399 scopus 로고
    • Adrenomyeloneuropathy presenting as Addison's disease in childhood
    • Sadeghi-Nejad A., Senior B. Adrenomyeloneuropathy presenting as Addison's disease in childhood. N Engl J Med 1990, 322:13-16.
    • (1990) N Engl J Med , vol.322 , pp. 13-16
    • Sadeghi-Nejad, A.1    Senior, B.2
  • 176
    • 3242762263 scopus 로고    scopus 로고
    • Cerebral X-linked adrenoleukodystrophy. the international hematopoietic cell transplantation experience from 1982 to 1999
    • Peters C., Charnas L.R., Tan Y., et al. Cerebral X-linked adrenoleukodystrophy. the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004, 104:881-888.
    • (2004) Blood , vol.104 , pp. 881-888
    • Peters, C.1    Charnas, L.R.2    Tan, Y.3
  • 177
    • 74849118207 scopus 로고    scopus 로고
    • Lovastatin in X-linked adrenoleukodystrophy
    • Engelen M., Ofman R., Dijkgraaf M.G., et al. Lovastatin in X-linked adrenoleukodystrophy. N Engl J Med 2010, 362:276-277.
    • (2010) N Engl J Med , vol.362 , pp. 276-277
    • Engelen, M.1    Ofman, R.2    Dijkgraaf, M.G.3
  • 178
    • 8144222441 scopus 로고    scopus 로고
    • The PEX Gene Screen. molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
    • Steinberg S., Chen L., Wei L., et al. The PEX Gene Screen. molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab 2004, 83:252-263.
    • (2004) Mol Genet Metab , vol.83 , pp. 252-263
    • Steinberg, S.1    Chen, L.2    Wei, L.3
  • 179
    • 14244267510 scopus 로고    scopus 로고
    • Peroxisomal disorders I. biochemistry and genetics of peroxisome biogenesis disorders
    • Wanders R.J.A., Waterham H.R. Peroxisomal disorders I. biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet 2005, 67:107-133.
    • (2005) Clin Genet , vol.67 , pp. 107-133
    • Wanders, R.J.A.1    Waterham, H.R.2
  • 180
    • 1542343821 scopus 로고    scopus 로고
    • Phenotypic variability (heterogeneity) of peroxisomal disorders
    • Mandel H., Korman S.H. Phenotypic variability (heterogeneity) of peroxisomal disorders. Adv Exp Med Biol 2003, 544:9-30.
    • (2003) Adv Exp Med Biol , vol.544 , pp. 9-30
    • Mandel, H.1    Korman, S.H.2
  • 181
    • 0027131856 scopus 로고
    • A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
    • Klima H., Ullrich K., Aslanidis C., et al. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. J Clin Invest 1993, 92:2713-2718.
    • (1993) J Clin Invest , vol.92 , pp. 2713-2718
    • Klima, H.1    Ullrich, K.2    Aslanidis, C.3
  • 182
    • 23444460383 scopus 로고
    • Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
    • Anderson R.A., Byrum R.S., Coates P.M., Sando G.N. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci U S A 1994, 91:2718-2722.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 2718-2722
    • Anderson, R.A.1    Byrum, R.S.2    Coates, P.M.3    Sando, G.N.4
  • 183
    • 0031852450 scopus 로고    scopus 로고
    • New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease
    • Pagani F., Pariyarath R., Garcia R., et al. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res 1998, 39:1382-1388.
    • (1998) J Lipid Res , vol.39 , pp. 1382-1388
    • Pagani, F.1    Pariyarath, R.2    Garcia, R.3
  • 184
    • 0032905861 scopus 로고    scopus 로고
    • Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease
    • Lohse P., Maas S., Sewell A.C., et al. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. J Lipid Res 1999, 40:221-228.
    • (1999) J Lipid Res , vol.40 , pp. 221-228
    • Lohse, P.1    Maas, S.2    Sewell, A.C.3
  • 185
    • 0034947754 scopus 로고    scopus 로고
    • Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease
    • Zschenker O., Jung N., Rethmeier J., et al. Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. J Lipid Res 2001, 42:1033-1040.
    • (2001) J Lipid Res , vol.42 , pp. 1033-1040
    • Zschenker, O.1    Jung, N.2    Rethmeier, J.3
  • 186
    • 67349154851 scopus 로고    scopus 로고
    • Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene
    • Pisciotta L., Fresa R., Bellocchio A., et al. Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab 2009, 97:143-148.
    • (2009) Mol Genet Metab , vol.97 , pp. 143-148
    • Pisciotta, L.1    Fresa, R.2    Bellocchio, A.3
  • 187
    • 70350294674 scopus 로고    scopus 로고
    • Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity
    • Gramatges M.M., Dvorak C.C., Regula D.P., et al. Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant 2009, 44:449-450.
    • (2009) Bone Marrow Transplant , vol.44 , pp. 449-450
    • Gramatges, M.M.1    Dvorak, C.C.2    Regula, D.P.3
  • 188
    • 58549097839 scopus 로고    scopus 로고
    • Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease
    • Tolar J., Petryk A., Khan K., et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant 2009, 43:21-27.
    • (2009) Bone Marrow Transplant , vol.43 , pp. 21-27
    • Tolar, J.1    Petryk, A.2    Khan, K.3
  • 189
    • 12844278861 scopus 로고    scopus 로고
    • 3β-hydroxysterol ?7-reductase and the Smith-Lemli-Opitz syndrome
    • Correa-Cerro L.S., Porter F.D. 3β-hydroxysterol ?7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab 2005, 84:112-126.
    • (2005) Mol Genet Metab , vol.84 , pp. 112-126
    • Correa-Cerro, L.S.1    Porter, F.D.2
  • 191
    • 0033582551 scopus 로고    scopus 로고
    • Adrenal insufficiency in Smith-Lemli-Opitz syndrome
    • Andersson H.C., Frentz J., Martinez J.E., et al. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am J Med Genet 1999, 82:382-384.
    • (1999) Am J Med Genet , vol.82 , pp. 382-384
    • Andersson, H.C.1    Frentz, J.2    Martinez, J.E.3
  • 192
    • 0030930127 scopus 로고    scopus 로고
    • Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness. report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
    • Nicolino M., Ferlin T., Forest M., et al. Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness. report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. J Clin Endocrinol Metab 1997, 82:3063-3067.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3063-3067
    • Nicolino, M.1    Ferlin, T.2    Forest, M.3
  • 194
    • 17044424544 scopus 로고    scopus 로고
    • Craniopharyngiomas in children and adults. systematic analysis of 121 cases with long-term follow-up
    • Karavitaki N., Brufani C., Warner J.T., et al. Craniopharyngiomas in children and adults. systematic analysis of 121 cases with long-term follow-up. Clin Endocrinol (Oxf) 2005, 62:397-409.
    • (2005) Clin Endocrinol (Oxf) , vol.62 , pp. 397-409
    • Karavitaki, N.1    Brufani, C.2    Warner, J.T.3
  • 195
  • 196
    • 0032989717 scopus 로고    scopus 로고
    • Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
    • Mendonca B.B., Osorio M.G., Latronico A.C., et al. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. J Clin Endocrinol Metab 1999, 84:942-945.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 942-945
    • Mendonca, B.B.1    Osorio, M.G.2    Latronico, A.C.3
  • 197
    • 0034455463 scopus 로고    scopus 로고
    • Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene
    • Pernasetti F., Toledo S.P., Vasilyev V.V., et al. Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. J Clin Endocrinol Metab 2000, 85:390-397.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 390-397
    • Pernasetti, F.1    Toledo, S.P.2    Vasilyev, V.V.3
  • 198
    • 0035937414 scopus 로고    scopus 로고
    • A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins
    • Lamolet B., Pulichino A.M., Lamonerie T., et al. A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. Cell 2001, 104:849-859.
    • (2001) Cell , vol.104 , pp. 849-859
    • Lamolet, B.1    Pulichino, A.M.2    Lamonerie, T.3
  • 199
    • 7244257410 scopus 로고    scopus 로고
    • TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency
    • Metherell L.A., Savage M.O., Dattani M., et al. TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. Eur J Endocrinol 2004, 151:463-465.
    • (2004) Eur J Endocrinol , vol.151 , pp. 463-465
    • Metherell, L.A.1    Savage, M.O.2    Dattani, M.3
  • 200
    • 0037444232 scopus 로고    scopus 로고
    • Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency
    • Pulichino A.M., Vallette-Kasic S., Couture C., et al. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev 2003, 17:711-716.
    • (2003) Genes Dev , vol.17 , pp. 711-716
    • Pulichino, A.M.1    Vallette-Kasic, S.2    Couture, C.3
  • 201
    • 20144388457 scopus 로고    scopus 로고
    • Congenital isolated adrenocorticotropin deficiency. an underestimated cause of neonatal death, explained by TPIT gene mutations
    • Vallette-Kasic S., Brue T., Pulichino A.M., et al. Congenital isolated adrenocorticotropin deficiency. an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab 2005, 90:1323-1331.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1323-1331
    • Vallette-Kasic, S.1    Brue, T.2    Pulichino, A.M.3
  • 202
    • 84858053971 scopus 로고    scopus 로고
    • Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations
    • Couture C., Saveanu A., Barlier A., et al. Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. J Clin Endocrinol Metab 2012, 97:E486-E495.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Couture, C.1    Saveanu, A.2    Barlier, A.3
  • 203
    • 0034456886 scopus 로고    scopus 로고
    • Triple H syndrome. a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis
    • Farooqi I.S., Jones M.K., Evans M., et al. Triple H syndrome. a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis. J Clin Endocrinol Metab 2000, 85:2644-2648.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 2644-2648
    • Farooqi, I.S.1    Jones, M.K.2    Evans, M.3
  • 204
    • 84902422780 scopus 로고    scopus 로고
    • Isolated glucocorticoid deficiency caused by immunoreactive but biologically inactive ACTH
    • Abst PL
    • Samuels M.E., Gallo-Payet N., Pinard S., et al. Isolated glucocorticoid deficiency caused by immunoreactive but biologically inactive ACTH. Horm Res Paed 2012, 78(Suppl. 1):4-5. Abst PL.
    • (2012) Horm Res Paed , vol.78 , Issue.SUPPL. 1 , pp. 4-5
    • Samuels, M.E.1    Gallo-Payet, N.2    Pinard, S.3
  • 205
    • 0031838353 scopus 로고    scopus 로고
    • Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
    • Krude H., Biebermann H., Luck W., et al. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998, 19:155-157.
    • (1998) Nat Genet , vol.19 , pp. 155-157
    • Krude, H.1    Biebermann, H.2    Luck, W.3
  • 206
    • 0242320429 scopus 로고    scopus 로고
    • Obesity due to proopiomelanocortin deficiency. three new cases and treatment trials with thyroid hormone and ACTH4-10
    • Krude H., Biebermann H., Schnabel D., et al. Obesity due to proopiomelanocortin deficiency. three new cases and treatment trials with thyroid hormone and ACTH4-10. J Clin Endocrinol Metab 2003, 88:4633-4640.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4633-4640
    • Krude, H.1    Biebermann, H.2    Schnabel, D.3
  • 207
    • 0030949271 scopus 로고    scopus 로고
    • Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
    • Jackson R.S., Creemers J.W., Ohagi S., et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997, 16:303-306.
    • (1997) Nat Genet , vol.16 , pp. 303-306
    • Jackson, R.S.1    Creemers, J.W.2    Ohagi, S.3
  • 208
    • 0346096721 scopus 로고    scopus 로고
    • Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
    • Jackson R.S., Creemers J.W., Farooqi I.S., et al. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 2003, 112:1550-1560.
    • (2003) J Clin Invest , vol.112 , pp. 1550-1560
    • Jackson, R.S.1    Creemers, J.W.2    Farooqi, I.S.3
  • 209
    • 0034453962 scopus 로고    scopus 로고
    • Adrenal suppression, evaluated by a low dose adrenocorticotropin test, and growth in asthmatic children treated with inhaled steroids
    • Kannisto S., Korppi M., Remes K., Voutilainen R. Adrenal suppression, evaluated by a low dose adrenocorticotropin test, and growth in asthmatic children treated with inhaled steroids. J Clin Endocrinol Metab 2000, 85:652-657.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 652-657
    • Kannisto, S.1    Korppi, M.2    Remes, K.3    Voutilainen, R.4
  • 210
    • 0036899187 scopus 로고    scopus 로고
    • Survey of adrenal crisis associated with inhaled corticosteroids in the United Kingdom
    • Todd G.R., Acerini C.L., Ross-Russell R., et al. Survey of adrenal crisis associated with inhaled corticosteroids in the United Kingdom. Arch Dis Child 2002, 87:457-461.
    • (2002) Arch Dis Child , vol.87 , pp. 457-461
    • Todd, G.R.1    Acerini, C.L.2    Ross-Russell, R.3
  • 211
    • 33749480996 scopus 로고    scopus 로고
    • Adrenal responses to low dose synthetic ACTH (Synacthen) in children receiving high dose inhaled fluticasone
    • Paton J., Jardine E., McNeill E., et al. Adrenal responses to low dose synthetic ACTH (Synacthen) in children receiving high dose inhaled fluticasone. Arch Dis Child 2006, 91:808-813.
    • (2006) Arch Dis Child , vol.91 , pp. 808-813
    • Paton, J.1    Jardine, E.2    McNeill, E.3
  • 212
    • 0023785767 scopus 로고
    • Diagnostic evaluation of Cushing's syndrome
    • Carpenter P.C. Diagnostic evaluation of Cushing's syndrome. Endocrinol Metab Clin North Am 1988, 17:445-472.
    • (1988) Endocrinol Metab Clin North Am , vol.17 , pp. 445-472
    • Carpenter, P.C.1
  • 214
    • 4043094711 scopus 로고    scopus 로고
    • Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis
    • Storr H.L., Isidori A.M., Monson J.P., et al. Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis. J Clin Endocrinol Metab 2004, 89:3818-3820.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3818-3820
    • Storr, H.L.1    Isidori, A.M.2    Monson, J.P.3
  • 215
    • 0018771565 scopus 로고
    • An infant with Cushing's disease due to an adrenocorticotropin-producing pituitary adenoma
    • Miller W.L., Townsend J.J., Grumbach M.M., Kaplan S.L. An infant with Cushing's disease due to an adrenocorticotropin-producing pituitary adenoma. J Clin Endocrinol Metab 1979, 48:1017-1025.
    • (1979) J Clin Endocrinol Metab , vol.48 , pp. 1017-1025
    • Miller, W.L.1    Townsend, J.J.2    Grumbach, M.M.3    Kaplan, S.L.4
  • 216
    • 0030983823 scopus 로고    scopus 로고
    • Long-term outcome in children and adolescents after transsphenoidal surgery for Cushing's disease
    • Devoe D.J., Miller W.L., Conte F.A., et al. Long-term outcome in children and adolescents after transsphenoidal surgery for Cushing's disease. J Clin Endocrinol Metab 1997, 82:3196-3202.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3196-3202
    • Devoe, D.J.1    Miller, W.L.2    Conte, F.A.3
  • 217
    • 23244461724 scopus 로고    scopus 로고
    • Cushing's disease in children and adolescents. 20 years of experience in a single neurosurgical center
    • Joshi S.M., Hewitt R.J., Storr H.L., et al. Cushing's disease in children and adolescents. 20 years of experience in a single neurosurgical center. Neurosurgery 2005, 57:281-285.
    • (2005) Neurosurgery , vol.57 , pp. 281-285
    • Joshi, S.M.1    Hewitt, R.J.2    Storr, H.L.3
  • 218
    • 32944457866 scopus 로고    scopus 로고
    • Single-center experience with pediatric Cushing's disease
    • Kanter A.S., Diallo A.O., Jane J.A., et al. Single-center experience with pediatric Cushing's disease. J Neurosurg 2005, 103:413-420.
    • (2005) J Neurosurg , vol.103 , pp. 413-420
    • Kanter, A.S.1    Diallo, A.O.2    Jane, J.A.3
  • 219
    • 0018261745 scopus 로고
    • Cushing's disease. selective trans-sphenoidal resection of pituitary microadenomas
    • Tyrrell J.B., Brooks R.M., Fitzgerald P.A., et al. Cushing's disease. selective trans-sphenoidal resection of pituitary microadenomas. N Engl J Med 1978, 298:753-758.
    • (1978) N Engl J Med , vol.298 , pp. 753-758
    • Tyrrell, J.B.1    Brooks, R.M.2    Fitzgerald, P.A.3
  • 220
    • 0028801263 scopus 로고
    • Bone mineral density and bone turnover before and after surgical cure of Cushing's syndrome
    • Hermus A.R., Smals A.G., Swinkels L.M., et al. Bone mineral density and bone turnover before and after surgical cure of Cushing's syndrome. J Clin Endocrinol Metab 1995, 80:2859-2865.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2859-2865
    • Hermus, A.R.1    Smals, A.G.2    Swinkels, L.M.3
  • 221
    • 33845952900 scopus 로고    scopus 로고
    • Effects of child- and adolescent-onset endogenous Cushing syndrome on bone mass, body composition, and growth. a 7-year prospective study into young adulthood
    • Leong G.M., Abad V., Charmandari E., et al. Effects of child- and adolescent-onset endogenous Cushing syndrome on bone mass, body composition, and growth. a 7-year prospective study into young adulthood. J Bone Miner Res 2007, 22:110-118.
    • (2007) J Bone Miner Res , vol.22 , pp. 110-118
    • Leong, G.M.1    Abad, V.2    Charmandari, E.3
  • 222
    • 0020514230 scopus 로고
    • Transsphenoidal microsurgical management of Cushing's disease. report of 100 cases
    • Boggan J.E., Tyrrell J.B., Wilson C.B. Transsphenoidal microsurgical management of Cushing's disease. report of 100 cases. J Neurosurg 1983, 59:195-200.
    • (1983) J Neurosurg , vol.59 , pp. 195-200
    • Boggan, J.E.1    Tyrrell, J.B.2    Wilson, C.B.3
  • 223
    • 0021364121 scopus 로고
    • Treatment of Cushing's disease in childhood and adolescence by transsphenoidal microadenomectomy
    • Styne D.M., Grumbach M.M., Kaplan S.L., et al. Treatment of Cushing's disease in childhood and adolescence by transsphenoidal microadenomectomy. N Engl J Med 1984, 310:889-893.
    • (1984) N Engl J Med , vol.310 , pp. 889-893
    • Styne, D.M.1    Grumbach, M.M.2    Kaplan, S.L.3
  • 224
    • 0028049663 scopus 로고
    • Cushing's syndrome in children and adolescents. presentation, diagnosis, and therapy
    • Magiakou M.A., Mastorakos G., Oldfield E.H., et al. Cushing's syndrome in children and adolescents. presentation, diagnosis, and therapy. N Engl J Med 1994, 331:629-636.
    • (1994) N Engl J Med , vol.331 , pp. 629-636
    • Magiakou, M.A.1    Mastorakos, G.2    Oldfield, E.H.3
  • 225
    • 0029091004 scopus 로고
    • Long term follow-up of transsphenoidal surgery for the treatment of Cushing's disease in childhood
    • Leinung M.C., Kane L.A., Scheithauer B.W., et al. Long term follow-up of transsphenoidal surgery for the treatment of Cushing's disease in childhood. J Clin Endocrinol Metab 1995, 80:2475-2479.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2475-2479
    • Leinung, M.C.1    Kane, L.A.2    Scheithauer, B.W.3
  • 226
    • 21344445941 scopus 로고    scopus 로고
    • Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease
    • Storr H.L., Afshar F., Matson M., et al. Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease. Eur J Endocrinol 2005, 152:825-833.
    • (2005) Eur J Endocrinol , vol.152 , pp. 825-833
    • Storr, H.L.1    Afshar, F.2    Matson, M.3
  • 227
    • 0030910458 scopus 로고    scopus 로고
    • Transsphenoidal surgery for pituitary tumours
    • Massoud A.F., Powell M., Williams R.A., et al. Transsphenoidal surgery for pituitary tumours. Arch Dis Child 1997, 76:398-404.
    • (1997) Arch Dis Child , vol.76 , pp. 398-404
    • Massoud, A.F.1    Powell, M.2    Williams, R.A.3
  • 229
    • 0033694383 scopus 로고    scopus 로고
    • Linear growth and final height after treatment for Cushing's disease in childhood
    • Lebrethon M.C., Grossman A.B., Afshar F., et al. Linear growth and final height after treatment for Cushing's disease in childhood. J Clin Endocrinol Metab 2000, 85:3262-3265.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3262-3265
    • Lebrethon, M.C.1    Grossman, A.B.2    Afshar, F.3
  • 230
    • 17044407029 scopus 로고    scopus 로고
    • Final adult height and body mass index after cure of paediatric Cushing's disease
    • Davies J.H., Storr H.L., Davies K., et al. Final adult height and body mass index after cure of paediatric Cushing's disease. Clin Endocrinol (Oxf) 2005, 62:466-472.
    • (2005) Clin Endocrinol (Oxf) , vol.62 , pp. 466-472
    • Davies, J.H.1    Storr, H.L.2    Davies, K.3
  • 231
    • 0345575654 scopus 로고    scopus 로고
    • Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease. an effective second-line treatment
    • Storr H.L., Plowman P.N., Carroll P.V., et al. Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease. an effective second-line treatment. J Clin Endocrinol Metab 2003, 88:34-37.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 34-37
    • Storr, H.L.1    Plowman, P.N.2    Carroll, P.V.3
  • 232
    • 0036933584 scopus 로고    scopus 로고
    • Medical therapy of Cushing's disease
    • Nieman L.K. Medical therapy of Cushing's disease. Pituitary 2002, 5:77-82.
    • (2002) Pituitary , vol.5 , pp. 77-82
    • Nieman, L.K.1
  • 233
    • 0025267796 scopus 로고
    • Infusion of low dose etomidate. correction of hypercortisolemia in patients with Cushing's syndrome and dose-response relationship in normal subjects
    • Schulte H.M., Benker G., Reinwein D., et al. Infusion of low dose etomidate. correction of hypercortisolemia in patients with Cushing's syndrome and dose-response relationship in normal subjects. J Clin Endocrinol Metab 1990, 70:1426-1430.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 1426-1430
    • Schulte, H.M.1    Benker, G.2    Reinwein, D.3
  • 234
    • 27144479463 scopus 로고    scopus 로고
    • Efficient short-term control of hypercortisolaemia by low-dose etomidate in severe paediatric Cushing's disease
    • Greening J.E., Brain C.E., Perry L.A., et al. Efficient short-term control of hypercortisolaemia by low-dose etomidate in severe paediatric Cushing's disease. Horm Res 2005, 64:140-143.
    • (2005) Horm Res , vol.64 , pp. 140-143
    • Greening, J.E.1    Brain, C.E.2    Perry, L.A.3
  • 235
    • 84863584389 scopus 로고    scopus 로고
    • Neuroendocrine ACTH-producing tumor of the thymus. experience with 12 patients over 25 years
    • Neary N.M., Lopez-Chavez A., Abel B.S., et al. Neuroendocrine ACTH-producing tumor of the thymus. experience with 12 patients over 25 years. J Clin Endocrinol Metab 2012, 97:2223-2230.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 2223-2230
    • Neary, N.M.1    Lopez-Chavez, A.2    Abel, B.S.3
  • 236
    • 0024398823 scopus 로고
    • Primary adrenal causes of Cushing's syndrome. diagnosis and surgical management
    • Perry R.R., Nieman L.K., Cutler G.B., et al. Primary adrenal causes of Cushing's syndrome. diagnosis and surgical management. Ann Surg 1989, 210:59-68.
    • (1989) Ann Surg , vol.210 , pp. 59-68
    • Perry, R.R.1    Nieman, L.K.2    Cutler, G.B.3
  • 237
    • 1542713361 scopus 로고    scopus 로고
    • Clinical and outcome characteristics of children with adrenocortical tumors. a report from the International Pediatric Adrenocortical Tumor Registry
    • Michalkiewicz E., Sandrini R., Figueiredo B., et al. Clinical and outcome characteristics of children with adrenocortical tumors. a report from the International Pediatric Adrenocortical Tumor Registry. J Clin Oncol 2004, 22:838-845.
    • (2004) J Clin Oncol , vol.22 , pp. 838-845
    • Michalkiewicz, E.1    Sandrini, R.2    Figueiredo, B.3
  • 238
    • 0035979262 scopus 로고    scopus 로고
    • An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
    • Ribeiro R.C., Sandrini F., Figueiredo B., et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA 2001, 98:9330-9335.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 9330-9335
    • Ribeiro, R.C.1    Sandrini, F.2    Figueiredo, B.3
  • 240
    • 0038579264 scopus 로고    scopus 로고
    • Adrenal cortical neoplasms in the pediatric population. a clinicopathologic and immunophenotypic analysis of 83 patients
    • Wieneke J.A., Thompson L.D., Heffess C.S. Adrenal cortical neoplasms in the pediatric population. a clinicopathologic and immunophenotypic analysis of 83 patients. Am J Surg Pathol 2003, 27:867-881.
    • (2003) Am J Surg Pathol , vol.27 , pp. 867-881
    • Wieneke, J.A.1    Thompson, L.D.2    Heffess, C.S.3
  • 241
    • 84857122951 scopus 로고    scopus 로고
    • The International Pediatric Adrenocortical Tumor Registry initiative. contributions to clinical, biological, and treatment advances in pediatric adrenocortical tumors
    • Ribeiro R.C., Pinto E.M., Zambetti G.P., Rodriguez-Galindo C. The International Pediatric Adrenocortical Tumor Registry initiative. contributions to clinical, biological, and treatment advances in pediatric adrenocortical tumors. Mol Cell Endocrinol 2012, 351:37-43.
    • (2012) Mol Cell Endocrinol , vol.351 , pp. 37-43
    • Ribeiro, R.C.1    Pinto, E.M.2    Zambetti, G.P.3    Rodriguez-Galindo, C.4
  • 242
    • 0024853439 scopus 로고
    • Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later
    • Young W.F., Carney J.A., Musa B.U., et al. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later. N Engl J Med 1989, 321:1659-1664.
    • (1989) N Engl J Med , vol.321 , pp. 1659-1664
    • Young, W.F.1    Carney, J.A.2    Musa, B.U.3
  • 243
    • 48949107188 scopus 로고    scopus 로고
    • Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin-independent Cushing syndrome)
    • Stratakis C.A. Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin-independent Cushing syndrome). Endocr Dev 2008, 13:117-132.
    • (2008) Endocr Dev , vol.13 , pp. 117-132
    • Stratakis, C.A.1
  • 245
    • 9144272628 scopus 로고    scopus 로고
    • Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia
    • Storr H.L., Mitchell H., Swords F.M., et al. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia. Clin Endocrinol (Oxf) 2004, 61:553-559.
    • (2004) Clin Endocrinol (Oxf) , vol.61 , pp. 553-559
    • Storr, H.L.1    Mitchell, H.2    Swords, F.M.3
  • 246
    • 0033812849 scopus 로고    scopus 로고
    • Mutations of the gene encoding the protein kinase A type 1-(regulatory subunit in patients with the Carney complex
    • Kirschner L.S., Carney J.A., Pack S.D., et al. Mutations of the gene encoding the protein kinase A type 1-(regulatory subunit in patients with the Carney complex. Nat Genet 2000, 26:89-92.
    • (2000) Nat Genet , vol.26 , pp. 89-92
    • Kirschner, L.S.1    Carney, J.A.2    Pack, S.D.3
  • 247
    • 0034642302 scopus 로고    scopus 로고
    • Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
    • Kirschner L.S., Sandrini F., Monbo J., et al. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 2000, 9:3037-3046.
    • (2000) Hum Mol Genet , vol.9 , pp. 3037-3046
    • Kirschner, L.S.1    Sandrini, F.2    Monbo, J.3
  • 248
    • 9444247656 scopus 로고    scopus 로고
    • PRKAR1A. normal and abnormal functions
    • Bossis I., Stratakis C.A. PRKAR1A. normal and abnormal functions. Endocrinology 2004, 145:5452-5458.
    • (2004) Endocrinology , vol.145 , pp. 5452-5458
    • Bossis, I.1    Stratakis, C.A.2
  • 249
    • 66749184725 scopus 로고    scopus 로고
    • Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A). phenotype analysis in 353 patients and 80 different genotypes
    • Bertherat J., Horvath A., Groussin L., et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A). phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009, 94:2085-2091.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 2085-2091
    • Bertherat, J.1    Horvath, A.2    Groussin, L.3
  • 250
    • 78649650474 scopus 로고    scopus 로고
    • Carney complex and other conditions associated with micronodular adrenal hyperplasias
    • Almeida M.Q., Stratakis C.A. Carney complex and other conditions associated with micronodular adrenal hyperplasias. Best Pract Res Clin Endocrinol Metab 2010, 24:907-914.
    • (2010) Best Pract Res Clin Endocrinol Metab , vol.24 , pp. 907-914
    • Almeida, M.Q.1    Stratakis, C.A.2
  • 251
    • 33748748991 scopus 로고    scopus 로고
    • 17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia
    • Bourdeau I., Matyakhina L., Stergiopoulos S.G., et al. 17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. J Clin Endocrinol Metab 2006, 91:3626-3632.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3626-3632
    • Bourdeau, I.1    Matyakhina, L.2    Stergiopoulos, S.G.3
  • 252
    • 33745548423 scopus 로고    scopus 로고
    • A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
    • Horvath A., Boikos S., Giatzakis C., et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 2006, 38:794-800.
    • (2006) Nat Genet , vol.38 , pp. 794-800
    • Horvath, A.1    Boikos, S.2    Giatzakis, C.3
  • 253
    • 0033504785 scopus 로고    scopus 로고
    • Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome
    • Kirk J.M., Brain C.E., Carson D.J., et al. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. J Pediatr 1999, 134:789-792.
    • (1999) J Pediatr , vol.134 , pp. 789-792
    • Kirk, J.M.1    Brain, C.E.2    Carson, D.J.3
  • 254
    • 0031697764 scopus 로고    scopus 로고
    • The diagnosis and differential diagnosis of Cushing's syndrome and pseudo-Cushing's states
    • Newell-Price J., Trainer P., Besser M., Grossman A. The diagnosis and differential diagnosis of Cushing's syndrome and pseudo-Cushing's states. Endocr Rev 1998, 19:647-672.
    • (1998) Endocr Rev , vol.19 , pp. 647-672
    • Newell-Price, J.1    Trainer, P.2    Besser, M.3    Grossman, A.4
  • 255
    • 0034853288 scopus 로고    scopus 로고
    • Clinical and molecular features of the Carney complex. diagnostic criteria and recommendations for patient evaluation
    • Stratakis C.A., Kirschner L.S., Carney J.A. Clinical and molecular features of the Carney complex. diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001, 86:4041-4046.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4041-4046
    • Stratakis, C.A.1    Kirschner, L.S.2    Carney, J.A.3
  • 256
    • 0032697639 scopus 로고    scopus 로고
    • Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease
    • Stratakis C.A., Sarlis N., Kirschner L.S., et al. Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med 1999, 131:585-591.
    • (1999) Ann Intern Med , vol.131 , pp. 585-591
    • Stratakis, C.A.1    Sarlis, N.2    Kirschner, L.S.3
  • 257
    • 0035218411 scopus 로고    scopus 로고
    • Relative contributions of inferior petrosal sinus sampling and pituitary imaging in the investigation of children and adolescents with ACTH-dependent Cushing's syndrome
    • Lienhardt A., Grossman A.B., Dacie J.E., et al. Relative contributions of inferior petrosal sinus sampling and pituitary imaging in the investigation of children and adolescents with ACTH-dependent Cushing's syndrome. J Clin Endocrinol Metab 2001, 86:5711-5714.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5711-5714
    • Lienhardt, A.1    Grossman, A.B.2    Dacie, J.E.3
  • 258
    • 4043056381 scopus 로고    scopus 로고
    • Jugular venous sampling. an alternative to petrosal sinus sampling for the diagnostic evaluation of adrenocorticotropic hormone-dependent Cushing's syndrome
    • Ilias I., Chang R., Pacak K., et al. Jugular venous sampling. an alternative to petrosal sinus sampling for the diagnostic evaluation of adrenocorticotropic hormone-dependent Cushing's syndrome. J Clin Endocrinol Metab 2004, 89:3795-3800.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3795-3800
    • Ilias, I.1    Chang, R.2    Pacak, K.3
  • 259
    • 79951506090 scopus 로고    scopus 로고
    • K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension
    • Choi M., Scholl U.I., Yue P., et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 2011, 331:768-772.
    • (2011) Science , vol.331 , pp. 768-772
    • Choi, M.1    Scholl, U.I.2    Yue, P.3
  • 260
    • 84864592834 scopus 로고    scopus 로고
    • A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension
    • Charmandari E., Sertedaki A., Kino T., et al. A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension. J Clin Endocrinol Metab 2012, 97:E1532-E1539.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Charmandari, E.1    Sertedaki, A.2    Kino, T.3
  • 261
    • 84856300896 scopus 로고    scopus 로고
    • KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism
    • Mulatero P., Tauber P., Zennaro M.C., et al. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension 2012, 59:235-240.
    • (2012) Hypertension , vol.59 , pp. 235-240
    • Mulatero, P.1    Tauber, P.2    Zennaro, M.C.3
  • 262
    • 84863115868 scopus 로고    scopus 로고
    • Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
    • Scholl U.I., Nelson-Williams C., Yue P., et al. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci U S A 2012, 109:2533-2538.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 2533-2538
    • Scholl, U.I.1    Nelson-Williams, C.2    Yue, P.3
  • 263
    • 84857623168 scopus 로고    scopus 로고
    • Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism
    • Boulkroun S, Beuschlein F., Rossi G.P., et al. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. Hypertension 2012, 59:592-598.
    • (2012) Hypertension , vol.59 , pp. 592-598
    • Boulkroun, S.1    Beuschlein, F.2    Rossi, G.P.3
  • 264
    • 3042754450 scopus 로고    scopus 로고
    • Familial/sporadic glucocorticoid resistance. clinical phenotype and molecular mechanisms
    • Charmandari E., Kino T., Chrousos G.P. Familial/sporadic glucocorticoid resistance. clinical phenotype and molecular mechanisms. Ann N Y Acad Sci 2004, 1024:168-181.
    • (2004) Ann N Y Acad Sci , vol.1024 , pp. 168-181
    • Charmandari, E.1    Kino, T.2    Chrousos, G.P.3
  • 266
    • 0026026319 scopus 로고
    • Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance
    • Hurley D.M., Accili D., Stratakis C.A., et al. Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. J Clin Invest 1991, 87:680-686.
    • (1991) J Clin Invest , vol.87 , pp. 680-686
    • Hurley, D.M.1    Accili, D.2    Stratakis, C.A.3
  • 267
    • 0027513378 scopus 로고
    • Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene
    • Karl M., Lamberts S.W., Detera-Wadleigh S.D., et al. Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J Clin Endocrinol Metab 1993, 76:683-689.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 683-689
    • Karl, M.1    Lamberts, S.W.2    Detera-Wadleigh, S.D.3
  • 268
    • 0035187441 scopus 로고    scopus 로고
    • Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus. importance of the ligand-binding domain for intracellular GR trafficking
    • Kino T., Stauber R.H., Resau J.H., et al. Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus. importance of the ligand-binding domain for intracellular GR trafficking. J Clin Endocrinol Metab 2001, 86:5600-5608.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5600-5608
    • Kino, T.1    Stauber, R.H.2    Resau, J.H.3
  • 269
    • 84856347768 scopus 로고    scopus 로고
    • Aldosterone resistance. structural and functional considerations and new perspectives
    • Zennaro M.C., Hubert E.L., Fernandes-Rosa F.L. Aldosterone resistance. structural and functional considerations and new perspectives. Mol Cell Endocrinol 2012, 350:206-215.
    • (2012) Mol Cell Endocrinol , vol.350 , pp. 206-215
    • Zennaro, M.C.1    Hubert, E.L.2    Fernandes-Rosa, F.L.3
  • 270
    • 13344295074 scopus 로고    scopus 로고
    • Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
    • Chang S.S., Grunder S., Hanukoglu A., et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996, 12:248-253.
    • (1996) Nat Genet , vol.12 , pp. 248-253
    • Chang, S.S.1    Grunder, S.2    Hanukoglu, A.3
  • 271
    • 0033565228 scopus 로고    scopus 로고
    • Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism
    • Kerem E., Bistritzer T., Hanukoglu A., et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999, 341:156-162.
    • (1999) N Engl J Med , vol.341 , pp. 156-162
    • Kerem, E.1    Bistritzer, T.2    Hanukoglu, A.3
  • 272
    • 0031861245 scopus 로고    scopus 로고
    • Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
    • Geller D.S., Rodriguez-Soriano J., Vallo-Boado A., et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998, 19:279-281.
    • (1998) Nat Genet , vol.19 , pp. 279-281
    • Geller, D.S.1    Rodriguez-Soriano, J.2    Vallo-Boado, A.3
  • 273
    • 0037968583 scopus 로고    scopus 로고
    • Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism
    • Sartorato P., Lapeyraque A.L., Armanini D., et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab 2003, 88:2508-2517.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 2508-2517
    • Sartorato, P.1    Lapeyraque, A.L.2    Armanini, D.3
  • 274
    • 0034617130 scopus 로고    scopus 로고
    • Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
    • Geller D.S., Farhi A., Pinkerton N., et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 2000, 289:119-123.
    • (2000) Science , vol.289 , pp. 119-123
    • Geller, D.S.1    Farhi, A.2    Pinkerton, N.3
  • 275
    • 0030066853 scopus 로고    scopus 로고
    • Renal tubular abnormalities in infants with hydronephrosis
    • Chandar J., Abitbol C., Zilleruelo G., et al. Renal tubular abnormalities in infants with hydronephrosis. J Urol 1996, 155:660-663.
    • (1996) J Urol , vol.155 , pp. 660-663
    • Chandar, J.1    Abitbol, C.2    Zilleruelo, G.3
  • 276
    • 79952799756 scopus 로고    scopus 로고
    • Cellular processing of the glucocorticoid receptor gene and protein. new mechanisms for generating tissue-specific actions of glucocorticoids
    • Oakley R.H., Cidlowski J.A. Cellular processing of the glucocorticoid receptor gene and protein. new mechanisms for generating tissue-specific actions of glucocorticoids. J Biol Chem 2011, 286:3177-3184.
    • (2011) J Biol Chem , vol.286 , pp. 3177-3184
    • Oakley, R.H.1    Cidlowski, J.A.2
  • 277
    • 0036133869 scopus 로고    scopus 로고
    • Neurosteroids. biochemistry and clinical significance
    • Mellon S.H., Griffin L.D. Neurosteroids. biochemistry and clinical significance. Trends Endocrinol Metab 2002, 13:35-43.
    • (2002) Trends Endocrinol Metab , vol.13 , pp. 35-43
    • Mellon, S.H.1    Griffin, L.D.2
  • 278
    • 4744372125 scopus 로고    scopus 로고
    • Transactivation via the human glucocorticoid and mineralocorticoid receptor by therapeutically used steroids in CV-1 cells. a comparison of their glucocorticoid and mineralocorticoid properties
    • Grossmann C., Scholz T., Rochel M., et al. Transactivation via the human glucocorticoid and mineralocorticoid receptor by therapeutically used steroids in CV-1 cells. a comparison of their glucocorticoid and mineralocorticoid properties. Eur J Endocrinol 2004, 151:397-406.
    • (2004) Eur J Endocrinol , vol.151 , pp. 397-406
    • Grossmann, C.1    Scholz, T.2    Rochel, M.3
  • 279
    • 0018779110 scopus 로고
    • Pituitary adrenal recovery following short-term suppression with corticosteroids
    • Streck W.F., Lockwood D.H. Pituitary adrenal recovery following short-term suppression with corticosteroids. Am J Med 1979, 66:910-914.
    • (1979) Am J Med , vol.66 , pp. 910-914
    • Streck, W.F.1    Lockwood, D.H.2


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