메뉴 건너뛰기




Volumn 9, Issue 2, 1998, Pages 82-86

The molecular and clinical spectrum of 3β-hydroxysteroid dehydrogenase deficiency disorder

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE; CORTICOTROPIN; STEROID;

EID: 0031969057     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1043-2760(98)00015-0     Document Type: Article
Times cited : (42)

References (20)
  • 1
    • 0027368192 scopus 로고
    • Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated non salt-wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia
    • Chang YT, Kulin HE, Garibaldi L, Suriano MJ, Bracki K, Pang S Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated non salt-wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 77:1993;1251-1257.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 1251-1257
    • Chang, Y.T.1    Kulin, H.E.2    Garibaldi, L.3    Suriano, M.J.4    Bracki, K.5    Pang, S.6
  • 2
    • 0029033431 scopus 로고
    • Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity
    • Chang YT, Zhang L, Alkaddour HSet al. Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity. Pediatr Res. 37:1995;820-824.
    • (1995) Pediatr Res , vol.37 , pp. 820-824
    • Chang, Y.T.1    Zhang, L.2    Alkaddour, H.S.3
  • 3
    • 0026551026 scopus 로고
    • The role of adrenocorticotropin tests in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea
    • Hawkins LA, Chasalow FI, Blethen SL The role of adrenocorticotropin tests in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea. J Clin Endocrinol Metab. 74:1992;248-253.
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 248-253
    • Hawkins, L.A.1    Chasalow, F.I.2    Blethen, S.L.3
  • 4
    • 0020296241 scopus 로고
    • Late-onset steroid 21-hydroxylase deficiency: A variant of classical congenital adrenal hyperplasia
    • Kohn B, Levine LS, Pollack MSet al. Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab. 55:1982;817-827.
    • (1982) J Clin Endocrinol Metab , vol.55 , pp. 817-827
    • Kohn, B.1    Levine, L.S.2    Pollack, M.S.3
  • 5
    • 0027056168 scopus 로고
    • Structure function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/Δ5-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues
    • Labrie F, Simard J, Luu-The V, Belanger A, Peletier G Structure function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/Δ5-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues. J Steroid Biochem Mol Biol. 43:1992;805-826.
    • (1992) J Steroid Biochem Mol Biol , vol.43 , pp. 805-826
    • Labrie, F.1    Simard, J.2    Luu-The, V.3    Belanger, A.4    Peletier, G.5
  • 6
    • 0019749335 scopus 로고
    • Evidence for reduced 3β-hydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome
    • Lobo RA, Goebelsmann U Evidence for reduced 3β-hydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome. J Clin Endocrinol Metab. 53:1981;394-400.
    • (1981) J Clin Endocrinol Metab , vol.53 , pp. 394-400
    • Lobo, R.A.1    Goebelsmann, U.2
  • 7
    • 0027170525 scopus 로고
    • The 3β-hydroxysteroid dehydrogenase gene family of enzymes
    • Mason JI The 3β-hydroxysteroid dehydrogenase gene family of enzymes. Trends Endocrinol Metab. 4:1993;199-202.
    • (1993) Trends Endocrinol Metab , vol.4 , pp. 199-202
    • Mason, J.I.1
  • 8
    • 0020556434 scopus 로고
    • Genotyping steroid 21-hydroxylase deficiency: A hormonal reference data
    • New MI, Lorenzen F, Lerner AJet al. Genotyping steroid 21-hydroxylase deficiency: a hormonal reference data. J Clin Endocrinol Metab. 57:1983;320-326.
    • (1983) J Clin Endocrinol Metab , vol.57 , pp. 320-326
    • New, M.I.1    Lorenzen, F.2    Lerner, A.J.3
  • 9
    • 0003093080 scopus 로고    scopus 로고
    • Inherited 3β-hydroxysteroid dehydrogenase deficiency disorder
    • Azziz R, Nestler JE, Dewailly D, eds. Philadelphia, Lippincott-Raven Publishers
    • Pang S: 1997a. Inherited 3β-hydroxysteroid dehydrogenase deficiency disorder. In Androgen Excess Disorders in Women. Azziz R, Nestler JE, Dewailly D, eds. Philadelphia, Lippincott-Raven Publishers, pp 201-213.
    • (1997) In Androgen Excess Disorders in Women , pp. 201-213
    • Pang, S.1
  • 10
    • 0030663094 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 26:1997;853-891.
    • (1997) Endocrinol Metab Clin North Am , vol.26 , pp. 853-891
    • Pang, S.1
  • 11
    • 0020702241 scopus 로고
    • Non salt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function
    • Pang S, Levine LS, Stoner Eet al. Non salt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. J Clin Endocrinol Metab. 56:1983;808-818.
    • (1983) J Clin Endocrinol Metab , vol.56 , pp. 808-818
    • Pang, S.1    Levine, L.S.2    Stoner, E.3
  • 12
    • 0021993387 scopus 로고
    • Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency I. A cause of hirsutism in pubertal and postpubertal women
    • Pang S, Learner A, Stoner Eet al. Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency I. A cause of hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab. 60:1985;428-438.
    • (1985) J Clin Endocrinol Metab , vol.60 , pp. 428-438
    • Pang, S.1    Learner, A.2    Stoner, E.3
  • 13
    • 0027971610 scopus 로고
    • Molecular basis of congenital adrenal hyperplasia in two siblings with classical non-salt-losing 3β-hydroxysteroid dehydrogenase deficiency
    • Rheaume E, Sanchez R, Simard Jet al. Molecular basis of congenital adrenal hyperplasia in two siblings with classical non-salt-losing 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 79:1994;1012-1018.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1012-1018
    • Rheaume, E.1    Sanchez, R.2    Simard, J.3
  • 14
    • 0018928573 scopus 로고
    • Pubertal presentation of congenital Δ5-3β-hydroxysteroid dehydrogenase deficiency
    • Rosenfield RL, Rich BH, Wolfsdorf JIet al. Pubertal presentation of congenital Δ5-3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 51:1980;345-353.
    • (1980) J Clin Endocrinol Metab , vol.51 , pp. 345-353
    • Rosenfield, R.L.1    Rich, B.H.2    Wolfsdorf, J.I.3
  • 15
    • 0029798423 scopus 로고    scopus 로고
    • Studies of 3β-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased ACTH stimulation Δ5 steroid levels
    • Sakkal-Alkaddour H, Zhang L, Yang Xet al. Studies of 3β-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased ACTH stimulation Δ5 steroid levels. J Clin Endocrinol Metab. 81:1996;3961-3965.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3961-3965
    • Sakkal-Alkaddour, H.1    Zhang, L.2    Yang, X.3
  • 16
    • 0028328226 scopus 로고
    • Detection and functional characterization of the novel missense mutation Y254D in Type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene of a female patient with nonsalt-losing 3β-HSD deficiency
    • Sanchez R, Rheaume E, Laflamme Net al. Detection and functional characterization of the novel missense mutation Y254D in Type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene of a female patient with nonsalt-losing 3β-HSD deficiency. J Clin Endocrinol Metab. 78:1994;561-567.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 561-567
    • Sanchez, R.1    Rheaume, E.2    Laflamme, N.3
  • 17
    • 0025066551 scopus 로고
    • ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism
    • Siegel SF, Finegold DN, Lanes R, Lee PA ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism. New Engl J Med. 323:1990;849-854.
    • (1990) New Engl J Med , vol.323 , pp. 849-854
    • Siegel, S.F.1    Finegold, D.N.2    Lanes, R.3    Lee, P.A.4
  • 18
    • 0027322946 scopus 로고
    • Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
    • Simard J, Rheaume E, Sanchez Ret al. Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency. Mol Endocrinol. 93:1993;716-728.
    • (1993) Mol Endocrinol , vol.93 , pp. 716-728
    • Simard, J.1    Rheaume, E.2    Sanchez, R.3
  • 20
    • 0028607480 scopus 로고
    • No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3β-HSD) in non-classical 3β-HSD deficiency
    • Zerah M, Rheaume E, Mani Pet al. No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3β-HSD) in non-classical 3β-HSD deficiency. J Clin Endocrinol Metab. 79:1994;1811-1817.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1811-1817
    • Zerah, M.1    Rheaume, E.2    Mani, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.