메뉴 건너뛰기




Volumn 75, Issue 2, 2014, Pages 40-47

Steroidogenesis of the testis - new genes and pathways

Author keywords

AKR1C2 4 genes; CYP11A1; CYP17A1; Disorder of sexual development; HSD17B3; HSD3B2; Lipoid congenital adrenal hyperplasia; POR and CYB5 deficiencies; SRD5A2

Indexed keywords

ANDROGEN; CYTOCHROME P450 17; CYTOCHROME P450 17A1; PRASTERONE; STEROID; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG; CHOLESTEROL;

EID: 84901270079     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2014.03.002     Document Type: Article
Times cited : (63)

References (25)
  • 1
    • 85170199583 scopus 로고    scopus 로고
    • Testicular disorders
    • Elsevier Saunders, Philadelphia, S. Melmed, K.S. Polonsky, P.R. Larsen, H.M. Kronenberg (Eds.)
    • Matsumoto A.M., Bremner W.J. Testicular disorders. Williams textbook of endocrinology 2011, 688-816. Elsevier Saunders, Philadelphia. 12 ed. S. Melmed, K.S. Polonsky, P.R. Larsen, H.M. Kronenberg (Eds.).
    • (2011) Williams textbook of endocrinology , pp. 688-816
    • Matsumoto, A.M.1    Bremner, W.J.2
  • 3
    • 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
  • 4
    • 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,17β-diol-20-one as a key intermediate
    • Wilson J.D., Auchus R.J., Leihy M.W., Guryev O.L., Estabrook R.W., Osborn S.M., et al. 5α-androstane-3α,17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α,17β-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    Guryev, O.L.4    Estabrook, R.W.5    Osborn, S.M.6
  • 5
    • 84876073490 scopus 로고    scopus 로고
    • Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation
    • Biason-Lauber A., Miller W.L., Pandey A.V., Fluck C.E. Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation. Mol Cell Endocrinol 2013, 371:124-132.
    • (2013) Mol Cell Endocrinol , vol.371 , pp. 124-132
    • Biason-Lauber, A.1    Miller, W.L.2    Pandey, A.V.3    Fluck, C.E.4
  • 6
    • 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., Kempna P., Miller W.L., Schoenle E.J., 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    Kempna, P.4    Miller, W.L.5    Schoenle, E.J.6
  • 7
    • 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
  • 8
    • 0042384482 scopus 로고    scopus 로고
    • The 17, 20 lyase activity of cytochrome P450c17 from human fetal testis favors the δ5 steroidogenic pathway
    • Fluck C.E., Miller W.L., Auchus R.J. The 17, 20 lyase activity of cytochrome P450c17 from human fetal testis favors the δ5 steroidogenic pathway. J Clin Endocrinol Metab 2003, 88:3762-3766.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3762-3766
    • Fluck, C.E.1    Miller, W.L.2    Auchus, R.J.3
  • 9
    • 84901255684 scopus 로고    scopus 로고
    • Adrenal cortex and its disorders
    • Saunders, Philadelphia, M.A. Sperling (Ed.)
    • Miller W.L., Flück C.E. Adrenal cortex and its disorders. Pediatric endocrinology 2014, Saunders, Philadelphia. 4th ed. M.A. Sperling (Ed.).
    • (2014) Pediatric endocrinology
    • Miller, W.L.1    Flück, C.E.2
  • 10
    • 78651044643 scopus 로고
    • The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphrodism)
    • Prader A., Gurtner H.P. The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphrodism). Helv Paediatr Acta 1955, 10:397-412.
    • (1955) Helv Paediatr Acta , vol.10 , pp. 397-412
    • Prader, A.1    Gurtner, H.P.2
  • 11
    • 0029855881 scopus 로고    scopus 로고
    • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
    • Bose H.S., Sugawara T., Strauss J.F.3rd, 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.3.3    Miller, W.L.4
  • 12
    • 79957611314 scopus 로고    scopus 로고
    • Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia
    • Fluck C.E., Pandey A.V., Dick B., Camats N., Fernandez-Cancio M., Clemente M., et al. Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLoS One 2011, 6:e20178.
    • (2011) PLoS One , vol.6
    • Fluck, C.E.1    Pandey, A.V.2    Dick, B.3    Camats, N.4    Fernandez-Cancio, M.5    Clemente, M.6
  • 13
    • 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., Nakae J., Miller W.L. 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    Nakae, J.4    Miller, W.L.5
  • 14
    • 0001763647 scopus 로고
    • The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase
    • Bongiovanni A.M. The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase. J Clin Invest 1962, 41:2086-2092.
    • (1962) J Clin Invest , vol.41 , pp. 2086-2092
    • Bongiovanni, A.M.1
  • 15
    • 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
  • 16
    • 0034494842 scopus 로고    scopus 로고
    • The testosterone:androstenedione ratio in male undermasculinization
    • Faisal Ahmed S., Iqbal A., Hughes I.A. The testosterone:androstenedione ratio in male undermasculinization. Clin Endocrinol 2000, 53:697-702.
    • (2000) Clin Endocrinol , vol.53 , pp. 697-702
    • Faisal Ahmed, S.1    Iqbal, A.2    Hughes, I.A.3
  • 17
    • 51649127549 scopus 로고    scopus 로고
    • Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20 lyase deficiency
    • Hershkovitz E., Parvari R., Wudy S.A., Hartmann M.F., Gomes L.G., Loewental N., et al. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20 lyase deficiency. J Clin Endocrinol Metab 2008, 93:3584-3588.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3584-3588
    • Hershkovitz, E.1    Parvari, R.2    Wudy, S.A.3    Hartmann, M.F.4    Gomes, L.G.5    Loewental, N.6
  • 18
    • 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., Patel P., Shackleton C.H., Taylor N.F., 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    Patel, P.4    Shackleton, C.H.5    Taylor, N.F.6
  • 19
    • 0022374725 scopus 로고
    • Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia
    • Peterson R.E., Imperato-McGinley J., Gautier T., Shackleton C.H.L. Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia. N Engl J Med 1985, 313:1182-1191.
    • (1985) N Engl J Med , vol.313 , pp. 1182-1191
    • Peterson, R.E.1    Imperato-McGinley, J.2    Gautier, T.3    Shackleton, C.H.L.4
  • 20
    • 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., Arlt W., Okuhara K., Verge C.F., 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    Arlt, W.4    Okuhara, K.5    Verge, C.F.6
  • 21
    • 84875217200 scopus 로고    scopus 로고
    • NADPH P450 oxidoreductase: structure, function, and pathology of diseases
    • Pandey A.V., Fluck C.E. NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacol Ther 2013, 138:229-254.
    • (2013) Pharmacol Ther , vol.138 , pp. 229-254
    • Pandey, A.V.1    Fluck, C.E.2
  • 22
    • 51649127549 scopus 로고    scopus 로고
    • Apparent isolated 17,20 lyase deficiency caused by the homozygous mutation G539R in P450 oxidoreductase
    • Hershkovitz E., Parvari R., Wudy S.A., Hartmann M.F., Gomes L.G., Loewental N., et al. Apparent isolated 17,20 lyase deficiency caused by the homozygous mutation G539R in P450 oxidoreductase. J Clin Endocrinol Metab 2008, 93:3584-3588.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3584-3588
    • Hershkovitz, E.1    Parvari, R.2    Wudy, S.A.3    Hartmann, M.F.4    Gomes, L.G.5    Loewental, N.6
  • 23
    • 84875527753 scopus 로고    scopus 로고
    • Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development
    • Fukami M., Homma K., Hasegawa T., Ogata T. Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. Dev Dyn 2013, 242:320-329.
    • (2013) Dev Dyn , vol.242 , pp. 320-329
    • Fukami, M.1    Homma, K.2    Hasegawa, T.3    Ogata, T.4
  • 24
    • 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., Remer T., Wudy S.A. 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    Remer, T.4    Wudy, S.A.5
  • 25
    • 0030020796 scopus 로고    scopus 로고
    • Prismatic cases: 17,20-desmolase (17,20 lyase) deficiency
    • Zachmann M. Prismatic cases: 17,20-desmolase (17,20 lyase) deficiency. J Clin Endocrinol Metab 1996, 81:457-459.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 457-459
    • Zachmann, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.