메뉴 건너뛰기




Volumn 5, Issue 3, 1998, Pages 155-161

Lessons from congenital lipoid adrenal hyperplasia

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL ESTER; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE;

EID: 0031808778     PISSN: 10683097     EISSN: None     Source Type: Journal    
DOI: 10.1097/00060793-199806000-00002     Document Type: Review
Times cited : (10)

References (49)
  • 1
    • 78651044643 scopus 로고
    • Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenuberproduktion (adrenaler Pseudohermaphroditismus masculinus)
    • Prader A, Gurtner HP: Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenuberproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv Paediatr Acta 1955, 10:397-412.
    • (1955) Helv Paediatr Acta , vol.10 , pp. 397-412
    • Prader, A.1    Gurtner, H.P.2
  • 2
    • 78651049762 scopus 로고
    • Nebenniereninsuffizienz bie kongenitaler Lipoidhyperplasie der Nebennieren
    • Prader A, Siebenmann RE: Nebenniereninsuffizienz bie kongenitaler Lipoidhyperplasie der Nebennieren. Helv Paediatr Acta 1957, 12:569-595.
    • (1957) Helv Paediatr Acta , vol.12 , pp. 569-595
    • Prader, A.1    Siebenmann, R.E.2
  • 3
    • 73649154589 scopus 로고
    • Zur Genetik der kongenitalen Lipoidhyperplasie der Nebennieren
    • Prader A, Anders CJPA: Zur Genetik der kongenitalen Lipoidhyperplasie der Nebennieren. Helv Paediatr Acta 1962, 17:285-289.
    • (1962) Helv Paediatr Acta , vol.17 , pp. 285-289
    • Prader, A.1    Anders, C.J.P.A.2
  • 4
    • 0022396907 scopus 로고
    • Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years
    • Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years. Clin Endocrinol 1985, 23:481-493.
    • (1985) Clin Endocrinol , vol.23 , pp. 481-493
    • Hauffa, B.P.1    Miller, W.L.2    Grumbach, M.M.3    Conte, F.A.4    Kaplan, S.L.5
  • 5
    • 0031454319 scopus 로고    scopus 로고
    • Congenital lipoid adrenal hyperplasia: The human gene knockout of the steroidogenic acute regulatory protein
    • Miller W: Congenital lipoid adrenal hyperplasia: the human gene knockout of the steroidogenic acute regulatory protein. J Mol Endocrinol 1997, 17:227-240.
    • (1997) J Mol Endocrinol , vol.17 , pp. 227-240
    • Miller, W.1
  • 6
    • 0024064517 scopus 로고
    • Molecular biology of steroid hormone synthesis
    • Miller WL: Molecular biology of steroid hormone synthesis. Endocr Rev 1988, 9:295-318.
    • (1988) Endocr Rev , vol.9 , pp. 295-318
    • Miller, W.L.1
  • 7
    • 0015420893 scopus 로고
    • Evidence for deficiency of 20α cholesterol hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia
    • Degenhart HJ, Visser KHA, Boon H, O'Doherty NJD: Evidence for deficiency of 20α cholesterol hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. Acta Endocrinol 1972, 71:512-518.
    • (1972) Acta Endocrinol , vol.71 , pp. 512-518
    • Degenhart, H.J.1    Visser, K.H.A.2    Boon, H.3    O'Doherty, N.J.D.4
  • 8
    • 0017376717 scopus 로고
    • Cholesterol side-chain cleavage enzyme activity and cytochrome P450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease)
    • Koizumi S, Kyoya S, Miyawaki T, Kidani H, Funabashi T, Nakashima H, Nakanuma Y, Ohta G, Itagaki E, Katagiri M: Cholesterol side-chain cleavage enzyme activity and cytochrome P450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). Clin Chim Acta 1977, 77:301-306.
    • (1977) Clin Chim Acta , vol.77 , pp. 301-306
    • Koizumi, S.1    Kyoya, S.2    Miyawaki, T.3    Kidani, H.4    Funabashi, T.5    Nakashima, H.6    Nakanuma, Y.7    Ohta, G.8    Itagaki, E.9    Katagiri, M.10
  • 13
    • 0024205797 scopus 로고
    • Pubertal presentation in patients with congenital lipoid adrenal hyperplasia (Prader's syndrome)
    • Tanae A, Miki Y, Hibi I: Pubertal presentation in patients with congenital lipoid adrenal hyperplasia (Prader's syndrome). Acta Paediatr Jpn 1988, 30(suppl):236-238.
    • (1988) Acta Paediatr Jpn , vol.30 , Issue.SUPPL. , pp. 236-238
    • Tanae, A.1    Miki, Y.2    Hibi, I.3
  • 14
    • 0010846503 scopus 로고
    • The phenotypic definition of congenital lipoid adrenal hyperplasia: Analysis of the 67 Japanese patients
    • Matsuo N, Tsuzaki S, Anzo M, Ogata T, Sato S: The phenotypic definition of congenital lipoid adrenal hyperplasia: analysis of the 67 Japanese patients [abstract]. Horm Res 1994, 41(suppl):106.
    • (1994) Horm Res , vol.41 , Issue.SUPPL. , pp. 106
    • Matsuo, N.1    Tsuzaki, S.2    Anzo, M.3    Ogata, T.4    Sato, S.5
  • 15
    • 0022545882 scopus 로고
    • Study of cholesterol side chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes
    • Matteson KJ, Chung B, Urdea MS, Miller WL: Study of cholesterol side chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. Endocrinology 1986, 118:1296-1305.
    • (1986) Endocrinology , vol.118 , pp. 1296-1305
    • Matteson, K.J.1    Chung, B.2    Urdea, M.S.3    Miller, W.L.4
  • 16
    • 0026348532 scopus 로고
    • Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia
    • Lin D, Gitelman SE, Saenger P, Miller WL: Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. J Clin Invest 1991, 88:1955-1962.
    • (1991) J Clin Invest , vol.88 , pp. 1955-1962
    • Lin, D.1    Gitelman, S.E.2    Saenger, P.3    Miller, W.L.4
  • 17
    • 0027770697 scopus 로고
    • The human peripheral benzodiazepine receptor gene: Cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia
    • Lin D, Chang YJ, Strauss JF III, Miller WL: The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia. Genomics 1993, 18:643-650.
    • (1993) Genomics , vol.18 , pp. 643-650
    • Lin, D.1    Chang, Y.J.2    Strauss III, J.F.3    Miller, W.L.4
  • 18
    • 0025996448 scopus 로고
    • Regulation of steroid hormone biosynthesis: Identification of precursors of a phosphoprotein targeted to the mitochondrion in stimulated rat adrenal cortex cells
    • Epstein LF, Orme-Johnson NR: Regulation of steroid hormone biosynthesis: identification of precursors of a phosphoprotein targeted to the mitochondrion in stimulated rat adrenal cortex cells. J Biol Chem 1991, 266:19739-19745.
    • (1991) J Biol Chem , vol.266 , pp. 19739-19745
    • Epstein, L.F.1    Orme-Johnson, N.R.2
  • 19
    • 0025941096 scopus 로고
    • The 30 KDa mitochondrial protein induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors
    • Stocco DM, Soderman TC: The 30 KDa mitochondrial protein induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors. J Biol Chem 1991, 266:19731-19738.
    • (1991) J Biol Chem , vol.266 , pp. 19731-19738
    • Stocco, D.M.1    Soderman, T.C.2
  • 20
    • 0030047248 scopus 로고    scopus 로고
    • Regulation of the acute production of steroids in steroidogenic cells
    • Stocco DM, Clark BJ: 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
  • 21
    • 0026694918 scopus 로고
    • Inherited congenital adrenal hyperplasia in the rabbit: Absent cholesterol side-chain cleavage cytochrome P450 gene expression
    • Pang S, Yang XH, Wang M, Tissot R, Nino M, Manaligod J, Bullock LP, Mason JI: Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. Endocrinology 1992, 131:181-186.
    • (1992) Endocrinology , vol.131 , pp. 181-186
    • Pang, S.1    Yang, X.H.2    Wang, M.3    Tissot, R.4    Nino, M.5    Manaligod, J.6    Bullock, L.P.7    Mason, J.I.8
  • 22
    • 0027164281 scopus 로고
    • Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme
    • Yang X, Iwamoto K, Wang M, Artwohl J, Mason JI, Pang S: Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme. Endocrinology 1993, 132:1977-1982.
    • (1993) Endocrinology , vol.132 , pp. 1977-1982
    • Yang, X.1    Iwamoto, K.2    Wang, M.3    Artwohl, J.4    Mason, J.I.5    Pang, S.6
  • 25
    • 84995998424 scopus 로고
    • Lack of mutations in P450scc gene (CYP11A) in six Japanese patients with congenital lipoid adrenal hyperplasia
    • Fukami M, Sato S, Ogata T, Matsuo N: Lack of mutations in P450scc gene (CYP11A) in six Japanese patients with congenital lipoid adrenal hyperplasia. Clin Pediatr Endocrinol 1995, 4:39-46.
    • (1995) Clin Pediatr Endocrinol , vol.4 , pp. 39-46
    • Fukami, M.1    Sato, S.2    Ogata, T.3    Matsuo, N.4
  • 26
    • 0030743449 scopus 로고    scopus 로고
    • A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
    • Okuyama E, Nishi N, Onishi S, Itoh S, Ishii Y, Miyanaka H, Fujita K, Ichikawa Y: A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 1997, 82:2337-2342.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2337-2342
    • Okuyama, E.1    Nishi, N.2    Onishi, S.3    Itoh, S.4    Ishii, Y.5    Miyanaka, H.6    Fujita, K.7    Ichikawa, Y.8
  • 27
    • 0028104418 scopus 로고
    • The purification, cloning and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 cells mouse Leydig tumor cells: Characterization of the steroidogenic acute regulatory protein (StAR)
    • Clark BJ, Wells J, King SR, Stocco DM: The purification, cloning and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 cells mouse Leydig tumor cells: characterization of the steroidogenic acute regulatory protein (StAR). J Biol Chem 1994, 269:28314-28322.
    • (1994) J Biol Chem , vol.269 , pp. 28314-28322
    • Clark, B.J.1    Wells, J.2    King, S.R.3    Stocco, D.M.4
  • 28
    • 0029030626 scopus 로고
    • Human steroidogenic acute regulatory protein (StAR): Functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and an expressed pseudogene to chromosome 13
    • Sugawara T, Holt JA, Driscoll D, Strauss JF III, Lin D, Miller WL, Patterson D, Clancy KP, Hart IM, Clark BJ, Stocco DM: Human steroidogenic acute regulatory protein (StAR): functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and an expressed pseudogene to chromosome 13. Proc Natl Acad Sci U S A 1995, 92:4778-4782.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 4778-4782
    • Sugawara, T.1    Holt, J.A.2    Driscoll, D.3    Strauss III, J.F.4    Lin, D.5    Miller, W.L.6    Patterson, D.7    Clancy, K.P.8    Hart, I.M.9    Clark, B.J.10    Stocco, D.M.11
  • 30
    • 0027311918 scopus 로고
    • Construction and function of fusion enzymes of the human cytochrome P450scc system
    • Harikrishna JA, Black SM, Szklarz GD, Miller WL: Construction and function of fusion enzymes of the human cytochrome P450scc system. DNA Cell Biol 1993, 12:371-379.
    • (1993) DNA Cell Biol , vol.12 , pp. 371-379
    • Harikrishna, J.A.1    Black, S.M.2    Szklarz, G.D.3    Miller, W.L.4
  • 31
    • 0020389679 scopus 로고
    • Metabolism of 25-hydroxycholesterol by rat luteal mitochondria and dispersed cells
    • Toaff ME, Schleyer H, Strauss JF III: Metabolism of 25-hydroxycholesterol by rat luteal mitochondria and dispersed cells. Endocrinology 1982, 111:1785-1790.
    • (1982) Endocrinology , vol.111 , pp. 1785-1790
    • Toaff, M.E.1    Schleyer, H.2    Strauss III, J.F.3
  • 32
    • 0028973522 scopus 로고
    • T-a transversion 11 bp from a splice acceptor site in the gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasla
    • Tee MK, Lin D, Sugaware T, Holt JA, Guiguen Y, Buckingham B, Strauss JF III, Miller WL: T-A transversion 11 bp from a splice acceptor site in the gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasla. Hum Mol Genet 1995, 4:2299-2305.
    • (1995) Hum Mol Genet , vol.4 , pp. 2299-2305
    • Tee, M.K.1    Lin, D.2    Sugaware, T.3    Holt, J.A.4    Guiguen, Y.5    Buckingham, B.6    Strauss III, J.F.7    Miller, W.L.8
  • 33
    • 0029855881 scopus 로고    scopus 로고
    • The pathophysiology and genetics of congenital lipod adrenal hyperplasia
    • Bose HS, Sugawara T, Strauss JF III, Miller WL: The pathophysiology and genetics of congenital lipod 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 III, J.F.3    Miller, W.L.4
  • 34
    • 0030955987 scopus 로고    scopus 로고
    • Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia caused by a homozygous frame-shift mutation in the steroidogenic acute regulatory protein
    • Bose HS, Pescovitz OH, Miller WL: Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia caused by a homozygous frame-shift 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
  • 37
    • 0028819993 scopus 로고
    • The structure of the human steroidogenic acute regulatory (StAR) protein gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity
    • Sugawara T, Lin D, Holt JA, Martin KO, Javitt NB, Miller WL, Strauss JF III: The structure of the human steroidogenic acute regulatory (StAR) protein gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. Biochemistry 1995, 34:12506-12512.
    • (1995) Biochemistry , vol.34 , pp. 12506-12512
    • Sugawara, T.1    Lin, D.2    Holt, J.A.3    Martin, K.O.4    Javitt, N.B.5    Miller, W.L.6    Strauss III, J.F.7
  • 38
    • 0015832930 scopus 로고
    • The metabolic clearance rate, blood production, interconversion and transplacental passage of cortisol and cortisone in pregnancy near term
    • Beitens IZ, Bayard F, Ances IG, Kowarski A, Migeon CJ: The metabolic clearance rate, blood production, interconversion and transplacental passage of cortisol and cortisone in pregnancy near term. Pediatr Res 1973, 7:509-519.
    • (1973) Pediatr Res , vol.7 , pp. 509-519
    • Beitens, I.Z.1    Bayard, F.2    Ances, I.G.3    Kowarski, A.4    Migeon, C.J.5
  • 39
    • 0023025676 scopus 로고
    • Developmental expression of genes for the steroidogenic enzymes P450scc (20,22 desmolase), P450c17 (17α-hydroxylase/17,20 lyase) and P450c21 (21-hydroxylase) in the human fetus
    • Voutilainen R, Miller WL: Developmental expression of genes for the steroidogenic enzymes P450scc (20,22 desmolase), P450c17 (17α-hydroxylase/17,20 lyase) and P450c21 (21-hydroxylase) in the human fetus. J Clin Endocrinol Metab 1986, 63:1145-1150.
    • (1986) J Clin Endocrinol Metab , vol.63 , pp. 1145-1150
    • Voutilainen, R.1    Miller, W.L.2
  • 42
    • 2642681121 scopus 로고    scopus 로고
    • Molecular defect of the steroidogenic acute regulatory protein (StAR) gene in Korean patients with congenital lipoid adrenal hyperplasia
    • Yoo HW: Molecular defect of the steroidogenic acute regulatory protein (StAR) gene in Korean patients with congenital lipoid adrenal hyperplasia [abstract]. Horm Res 1997, 48(suppl 2):107.
    • (1997) Horm Res , vol.48 , Issue.2 SUPPL. , pp. 107
    • Yoo, H.W.1
  • 43
    • 0030848810 scopus 로고    scopus 로고
    • Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides Insights into congenital lipid adrenal hyperplasia
    • Caron K, Soo S-C, Wetsel W, Stocco D, Clark B, Parker K: Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides Insights into congenital lipid adrenal hyperplasia. Proc Natl Acad Sci U S A 1997, 94:11540-11545.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 11540-11545
    • Caron, K.1    Soo, S.-C.2    Wetsel, W.3    Stocco, D.4    Clark, B.5    Parker, K.6
  • 44
    • 0030459652 scopus 로고    scopus 로고
    • Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial targeting sequence: Implications for the mechanism of StAR action
    • Arakane F, Sugawara T, Nishino H, Liu Z, Holt JA, Pain D, Stocco DM, Miller WL, Strauss JF III: Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial targeting sequence: implications for the mechanism of StAR action. Proc Natl Acad Sci U S A 1996, 93:13731-13736.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 13731-13736
    • Arakane, F.1    Sugawara, T.2    Nishino, H.3    Liu, Z.4    Holt, J.A.5    Pain, D.6    Stocco, D.M.7    Miller, W.L.8    Strauss III, J.F.9
  • 45
    • 0028003285 scopus 로고
    • Neurosteroids: Biochemistry, modes of action, and clinical relevance
    • Mellon SH: Neurosteroids: biochemistry, modes of action, and clinical relevance. J Clin Endocrinol Metab 1994, 78:1003-1008.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1003-1008
    • Mellon, S.H.1
  • 47
    • 0028303959 scopus 로고
    • A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
    • Luo X, Ikeda Y, Parker KL: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994, 77:481-490.
    • (1994) Cell , vol.77 , pp. 481-490
    • Luo, X.1    Ikeda, Y.2    Parker, K.L.3
  • 48
    • 0032038565 scopus 로고    scopus 로고
    • Why nobody has P450scc (20, 22 desmolase) deficiency
    • Miller WL: Why nobody has P450scc (20, 22 desmolase) deficiency [letter]. J Clin Endocrinol Metab 1998, 83:1399-1400.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1399-1400
    • Miller, W.L.1
  • 49
    • 0017804863 scopus 로고
    • Indispensibility of the human corpus luteum in the maintenance of early pregnancy: Lutectomy evidence
    • Csapo AI, Pulkkinen MO: Indispensibility of the human corpus luteum in the maintenance of early pregnancy: lutectomy evidence. Obstet Gynecol Surv 1978, 83:69-81.
    • (1978) Obstet Gynecol Surv , vol.83 , pp. 69-81
    • Csapo, A.I.1    Pulkkinen, M.O.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.