Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase/δ5-δ4 isomerase deficiency

Seminars in Reproductive Medicine

Volumn 20, Issue 3, 2002, Pages 255-276

  Simard, Jacques ^a   Moisan, Anne Marie ^a   Morel, Yves ^a  

^a LAVAL UNIVERSITY   (Canada)

Author keywords

Adrenal; Congenital adrenal hyperplasia; Male pseudohermaphroditism; Molecular diagnosis; Ovary; Steroidogenesis; Structure function relationships; Testis

Indexed keywords

18 HYDROXYCORTICOSTERONE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CHOLESTEROL; CORTICOSTERONE; DEOXYCORTICOSTERONE; GENE PRODUCT; ISOENZYME; PRASTERONE SULFATE; PREGNENOLONE; PROGESTERONE; STEROID DELTA ISOMERASE;

ADRENAL GLAND; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CELL SPECIFICITY; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE DELETION; GENE ISOLATION; HSD3B1 GENE; HSD3B2 GENE; HUMAN; ISOMERISM; MISSENSE MUTATION; MOLECULAR MECHANICS; MULTIGENE FAMILY; NONSENSE MUTATION; OVARY; OXIDATION; PHENOTYPE; PROTEIN STABILITY; REVIEW; RNA SPLICING; SALT LOSING NEPHRITIS; SIGNAL TRANSDUCTION; STEROID METABOLISM; STRUCTURE ACTIVITY RELATION; TESTIS; TISSUE SPECIFICITY;

3-HYDROXYSTEROID DEHYDROGENASES; ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SEQUENCE; ANIMALS; GENE EXPRESSION; GONADS; HUMANS; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY;

EID: 0036669594     PISSN: 15268004     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-35373     Document Type: Review

References (141)

1. Cherradi N, Defaye G, Chambaz EM. Dual subcellular localization of the 3β-hydroxysteroid dehydrogenase isomerase: Characterization of the mitochondrial enzyme in the bovine adrenal cortex. J Steroid Biochem Mol Biol 1993;46:773-779
2. Cherradi N, Defaye G, Chambaz EM. Characterization of the 3β-hydroxysteroid dehydrogenase activity associated with bovine adrenocortical mitochondria. Endocrinology 1994;134:1358-1364
3. Cherradi N, Rossier MF, Vallotton MB, et al. Submitochondrial distribution of three key steroidogenic proteins (steroidogenic acute regulatory protein and cytochrome p450scc and 3β-hydroxysteroid dehydrogenase isomerase enzymes) upon stimulation by intracellular calcium in adrenal glomerulosa cells. J Biol Chem 1997;272:7899-7907
4. Luu-The V, Lachance Y, Labrie C, et al. Full length cDNA structure and deduced amino acid sequence of human 3β-hydroxy-5-ene steroid dehydrogenase. Mol Endocrinol 1989;3:1310-1312
5. Sauer LA, Chapman JC, Dauchy RT. Topology of 3β-hydroxy-5-ene-steroid dehydrogenase/delta 5-delta 4-isomerase in adrenal cortex mitochondria and microsomes. Endocrinology 1994;134:751-759
6. Thomas JL, Evans BW, Blanco G, et al. Site-directed mutagenesis identifies amino acid residues associated with the dehydrogenase and isomerase activities of human type I (placental) 3β-hydroxysteroid dehydrogenase/isomerase. J Steroid Biochem Mol Biol 1998;66:327-334
7. Mason JI, Keeney DS, Bird IM, et al. The regulation of 3β-hydroxysteroid dehydrogenase expression. Steroids 1997;62:164-168
8. Payne AH, Abbaszade IG, Clarke TR, Bain PA, Park CH. The multiple murine 3β-hydroxysteroid dehydrogenase isoforms: Structure, function, and tissue- and developmentally specific expression. Steroids 1997;62:169-175
9. Simard J, Durocher F, Mebarki F, et al. Molecular biology and genetics of the 3β-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. J Endocrinol 1996;150(suppl):S189-S207
10. Mason JI, Naville D, Evans BW, Thomas JL. Functional activity of 3β-hydroxysteroid dehydrogenase/isomerase. Endocr Res 1998;24:549-557
11. Lachance Y, Luu-The V, Labrie C, et al. Characterization of human 3β-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells [published erratum appears in J Biol Chem 1992;267:3551]. J Biol Chem 1990;265:20469-20475
12. Lorence MC, Murry BA, Trant JM, Mason JI. Human 3β-hydroxysteroid dehydrogenase/delta 5-4 isomerase from placenta: Expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids. Endocrinology 1990;126:2493-2498
13. Rheaume E, Lachance Y, Zhao HF, et al. Structure and expression of a new complementary DNA encoding the almost exclusive 3β-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads. Mol Endocrinol 1991;5:1147-1157
14. Thomas JL, Frieden C, Nash WE, Strickler RC. An NADH-induced conformational change that mediates the sequential 3β-hydroxysteroid dehydrogenase/isomerase activities is supported by affinity labeling and the time-dependent activation of isomerase. J Biol Chem 1995;270:21003-21008
15. Luu-The V, Coté J, Labrie F. 1988 Purification and characterization of human placental 3β-hydroxysteroid dehydrogenase/5-4-isomerase. Clin Invest Med 1988;11(suppl):C32 (Abstract)
16. Luu-The V, Coté J, Labrie F. 1990 Purification of microsomal 3β-hydroxysteroid dehydrogenase/5-4-isomerase from human placenta. Ann N Y Acad Sci 1990;595:386-388
17. Nickson DA, McBride MW, Zeinali S, et al. Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3β-hydroxy-5-ene steroid dehydrogenase. J Reprod Fertil 1991;93:149-156
18. Dumont M, Van LT, Dupont E, Pelletier G, Labrie F. Characterization, expression, and immunohistochemical localization of 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin. J Invest Dermatol 1992;99:415-421
19. Gingras S, Moriggl R, Groner B, Simard J. Induction of 3β-hydroxysteroid dehydrogenase/delta5-delta4 isomerase type 1 gene transcription in human breast cancer cell lines and in normal mammary epithelial cells by interleukin-4 and interleukin-13. Mol Endocrinol 1999;13:66-81
20. Gingras S, Simard J. Induction of 3β-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines. Endocrinology 1999;140:4573-4584
21. Lachance Y, Luu-The V, Labrie C, et al. Characterization of human 3β-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells [erratum]. J Biol Chem 1992;267:3551
22. Rheaume E, Simard J, Morel Y, et al. Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene. Nat Genet 1992;1:239-245
23. Simard J, Rheaume E, Mebarki F, et al. Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency. J Steroid Biochem Mol Biol 1995;53:127-138
24. Simard J, Rheaume E, Sanchez R, et al. Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency. Mol Endocrinol 1993;7:716-728
25. Lachance Y, Luu-The V, Verreault H, et al. Structure of the human type II 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3β-HSD) gene: Adrenal and gonadal specificity. DNA Cell Biol 1991;10:701-711
26. Lorence MC, Corbin CJ, Kamimura N, Mahendroo MS, Mason JI. Structural analysis of the gene encoding human 3β-hydroxysteroid dehydrogenase/delta 5-4-isomerase. Mol Endocrinol 1990;4:1850-1855
27. Berube D, Luu-The V, Lachance Y, Gagne R, Labrie F. Assignment of the human 3β-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1. Cytogenet Cell Genet 1989;52:199-200
28. Morissette J, Rheaume E, Leblanc JF, et al. Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3β-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus. Cytogenet Cell Genet 1995;69:59-62
29. Luu-The V, Lachance Y, Leblanc G, Labrie F. Human 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase: Characterization of three additional related genes. Proceedings of the 74th Annual Endocrine Society Meeting, San Antonio, June 1992
30. Bain PA, Meisler MH, Taylor BA, Payne AH. The genes encoding gonadal and nongonadal forms of 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3. Genomics 1993;16:219-223
31. McBride MW, McVie AJ, Burridge SM, et al. Cloning, expression, and physical mapping of the 3β-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. Genomics 1999;61:277-284
32. Russell A, Nazer H, Shams A, Sjovall J, Sutcliffe R. No linkage to the 3β-HSD gene cluster in a kindred affected with 3β-hydroxy-delta 5-C27-steroid dehydrogenase deficiency and early onset hepatic failure. Hum Genet 1995;95:586-588
33. Furster C. Hepatic and extrahepatic dehydrogenation/isomerization of 5-cholestene-3β,7α-diol: Localization of 3β-hydroxy-delta 5-C27-steroid dehydrogenase in pig tissues and subcellular fractions. Biochim Biophys Acta 1999;1436:343-353
34. Filling C, Marschall HU, Prozorovski T, et al. Structure-function relationships of 3β-hydroxysteroid dehydrogenases involved in bile acid metabolism. Adv Exp Med Biol 1999;463:389-394
35. Liu XY, Dangel AW, Kelley RI, et al. The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase. Nat Genet 1999;22:182-187
36. Wilson JD, Griffin JE, Russell DW. Steroid 5 alpha-reductase 2 deficiency. Endocr Rev 1993;14:577-593
37. Grumbach M, Conte F. Disorders of sex differentiation. In: Wilson JD, et al, eds. Williams Textbook of Endocrinology. Philadelphia: WB Saunders; 1999:1303-1425
38. Quigley CA. Disorders of sex determination and differentiation. In: Jameson JL, ed. Principles of Molecular Medicine. Totowa, NJ: Humana Press; 1998:527-559
39. Dupont E, Labrie F, Luu-The V, Pelletier G. Immunocytochemical localization of 3β-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human ovary. J Clin Endocrinol Metab 1992;74:994-998
40. Kaplan S, Grumbach M. Pituitary and placental gonadotropin and sex steroids in the human and sub-human primate fetus. J Clin Endocrinol Metab 1978;7:487-511
41. Goldman AS, Yakovac WC, Bongiovanni AM. Development of activity of 3β-hydroxysteroid dehydrogenase in human fetal tissues and in two anencephalic newborns. J Clin Endocrinol Metab 1966;26:14-22
42. George FW, Wilson JD. The regulation of androgen and estrogen formation in fetal gonads. Ann Biol Anim Biochem Biophys 1979;19:1297-1306
43. Baillie A, Niemi M, Ikanen M. 3β-Hydroxysteroid dehydrogenase activity in the human foetal testis. Acta Endocrinol (Copenh) 1965;48:429-438
44. Milewich L, Shaw CE, Doody KM, et al. 3β-Hydroxysteroid dehydrogenase activity in glandular and extraglandular human fetal tissues. J Clin Endocrinol Metab 1991;73:1134-1140
45. Parker CR Jr, Faye-Petersen O, Stankovic AK, Mason JI, Grizzle WE. Immunohistochemical evaluation of the cellular localization and ontogeny of 3β-hydroxysteroid dehydrogenase/delta 5-4 isomerase in the human fetal adrenal gland. Endocr Res 1995;21:69-80
46. Dupont E, Luu-The V, Labrie F, Pelletier G. Ontogeny of 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3β-HSD) in human testis as studied by immunocytochemistry. J Androl 1991;12:161-164
47. Seron Ferre M. Steroid production by definitive and fetal zones of the human fetal adrenal gland. J Clin Endocrinol Metab 1978;47:603-609
48. Simonian MH, Gill GN. Regulation of the fetal human adrenal cortex: Effects of adrenocorticotropin on growth and function of monolayer cultures of fetal and definitive zone cells. Endocrinology 1981;108:1769-1779
49. Dupont E, Luu-The V, Labrie F, Pelletier G. Ontogeny of 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3β-HSD) in human adrenal gland performed by immunocytochemistry. Mol Cell Endocrinol 1990;74:R7-R10
50. Doody KM, Carr BR, Rainey WE, et al. 3β-Hydroxysteroid dehydrogenase/isomerase in the fetal zone and neocortex of the human fetal adrenal gland. Endocrinology 1990;126:2487-2492
51. Mesiano S, Coulter CL, Jaffe RB. Localization of cytochrome P450 cholesterol side-chain cleavage, cytochrome P450 17 alpha-hydroxylase/17,20-lyase, and 3β-hydroxysteroid dehydrogenase isomerase steroidogenic enzymes in human and rhesus monkey fetal adrenal glands: Reappraisal of functional zonation. J Clin Endocrinol Metab 1993;77:1184-1189
52. Voutilainen R, Ilvesmaki V, Miettinen PJ. Low expression of 3β-hydroxy-5-ene steroid dehydrogenase gene in human fetal adrenals in vivo: Adrenocorticotropin and protein kinase C-dependent regulation in adrenocortical cultures. J Clin Endocrinol Metab 1991;72:761-767
53. Dupont E, Luu-The V, Labrie F, Pelletier G. Light microscopic immunocytochemical localization of 3β-hydroxy-5-ene-steroid dehydrogenase/delta 5-delta 4-isomerase in the gonads and adrenal glands of the guinea pig. Endocrinology 1990;126:2906-2909
54. Albrecht ED, Aberdeen GW, Babischkin JS, Tilly JL, Pepe GJ. Biphasic developmental expression of adrenocorticotropin receptor messenger ribonucleic acid levels in the baboon fetal adrenal gland. Endocrinology 1996;137:1292-1298
55. Coulter CL, Goldsmith PC, Mesiano S, et al. Functional maturation of the primate fetal adrenal in vivo: II. Ontogeny of corticosteroid synthesis is dependent upon specific zonal expression of 3β-hydroxysteroid dehydrogenase/isomerase. Endocrinology 1996;137:4953-4959
56. Herman-Giddens ME, Slora E, Wasserman RC, et al. Secondary sexual characteristics and menses in young girls seen in office practice: A study from the pediatric research in office settings network. Pediatrics 1997;99:505-512
57. Cutler GB Jr, Glenn M, Bush M, et al. Adrenarche: A survey of rodents, domestic animals, and primates. Endocrinology 1978;103:2112-2118
58. Dardis A, Saraco N, Rivarola MA, Belgorosky A. Decrease in the expression of the 3β-hydroxysteroid dehydrogenase gene in human adrenal tissue during prepuberty and early puberty: Implications for the mechanism of adrenarche. Pediatr Res 1999;45:384-388
59. Gell JS, Carr BR, Sasano H, et al. Adrenarche results from development of a 3β-hydroxysteroid dehydrogenase-deficient adrenal reticularis. J Clin Endocrinol Metab 1998;83:3695-3701
60. Conley AJ, Bird IM. The role of cytochrome P450 17 alpha-hydroxylase and 3β-hydroxysteroid dehydrogenase in the integration of gonadal and adrenal steroidogenesis via the delta 5 and delta 4 pathways of steroidogenesis in mammals. Biol Reprod 1997;56:789-799.
61. Mapes S, Corbin CJ, Tarantal A, Conley A. The primate adrenal zona reticularis is defined by expression of cytochrome b5, 17alpha-hydroxylase/17,20-lyase cytochrome P450 (P450c17) and NADPH-cytochrome P450 reductase (reductase) but not 3β-hydroxysteroid dehydrogenase/delta5-4 isomerase (3β-HSD). J Clin Endocrinol Metab 1999;84:3382-3385
62. Miller W. The regulation of 17,20 lyase activity. Steroids 1997;62:133-142
63. Bois E, Mornet E, Chompret A, et al. Congenital adrenal hyperplasia (21-OH) in France: Population genetics. Arch Fr Pediatr 198542:175-179
64. Thilen A, Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986: Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand 1990;79:168-175
65. Donohoue P, Parker K, Migeon C. Congenital adrenal hyperplasia. In: Scriver C, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 1995:2929-2966
66. Forest MG. Diagnosis and treatment of disorders of sexual development. In: Degroot LJ, ed. Endocrinology. 3rd Ed. Vol. 2. Montreal: WB Saunders; 1995:1901-1937
67. Wilson R, New MI. Congenital adrenal hyperplasia. In: Jameson JL, ed. Principles of Molecular Medicine. Totowa, NJ: Humana Press; 1998:481-493
68. Bongiovanni AM. Unusual steroid pattern in congenital adrenal hyperplasia: Deficiency of 3β-hydroxysteroid dehydrogenase. J Clin Endocrinol 1961;21:860-862
69. Bongiovanni AM. The adrenogenital syndrome with deficiency of 3b-hydroxy dehydrogenase. J Clin Invest 1962;41:2086-2092
70. Moisan AM, Ricketts ML, 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
71. Morel Y, Mebarki F, Rheaume E, et al. Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency. Steroids 1997;62:176-184
72. Pang S. The molecular and clinical spectrum of 3β-hydroxysteroid dehydrogenase deficiency disorder. Trends Endocrinol Metab 1998;9:82-86
73. Russell AJ, Wallace AM, Forest MG, et al. Mutation in the human gene for 3β-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. J Mol Endocrinol 1994;12:225-237
74. Eldar-Geva T, Hurwitz A, Vecsei P, et al. Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia. N Engl J Med 1990;323:855-863
75. Medina M, Herrera J, Flores M, et al. Normal ovarian function in a mild form of late-onset 3β-hydroxysteroid dehydrogenase deficiency. Fertil Steril 1986;46:1021-1025
76. Pang SY, Lerner AJ, Stoner E, et al. Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency: I. A cause of hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab 1985;60:428-439
77. Schram P, Zerah M, Mani P, et al. Nonclassical 3β-hydroxysteroid dehydrogenase deficiency: A review of our experience with 25 female patients. Fertil Steril 1992;58:129-136
78. Zerah M, Rheaume E, Mani P, et al. No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3βHSD) in nonclassical 3βHSD deficiency. J Clin Endocrinol Metab 1994;79:1811-1817
79. Chang YT, Zhang L, Alkaddour HS, et 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 1995;37:820-824
80. Forest MG, Mebatki F, David A, Bureau L, Morel Y. Diagnosis of partial 3β-hydroxysteroid dehydrogenase (3β-HSD) questioned: Lessons from long-term study and molecular biology. Horm Res 1995;44:55
81. Sakkal-Alkaddour H, Zhang L, Yang X, et al. Studies of 3β-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels. J Clin Endocrinol Metab 1996;81:3961-3965
82. Mebarki F. Etude Moléculaire de Causes de Pseudohermaphrodisme Masculin le Syndrome D'insensibilité aux Androgenes, le Deficit en Enzyme de la Stériodogénese 3β-HSD [doctorat]. Lyon, France: l'Université Lyon; 1995
83. Moran C, Knochenhauer ES, Azziz R. Non-classic adrenal hyperplasia in hyperandrogenism: A reappraisal. J Endocrinol Invest 1998;21:707-720
84. de Peretti E, Forest MG, Feit JP, David M. Endocrine studies in two children with male pseudohermaphroditism due to 3β-hydroxysteroid dehydrogenase (3β-HSD) defect. In: Genazzani AR, Thijssen JHH, Siiteri PK, eds. Adrenal Androgens. New York: Raven Press; 1980:141-145
85. Heinrich UE, Bettendorf M, Vecsei P. Male pseudohermaphroditism caused by nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency. J Steroid Biochem Mol Biol 1993;45:83-85
86. Janne O, Perheentupa J, Vihko R. Plasma and urinary steroids in an eight-year-old boy with 3-β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 1970;31:162-165
87. Kenny FM, Reynolds JW, Green OC. Partial 3-hydroxysteroid dehydrogenase (3β-HSD) deficiency in a family with congenital adrenal hyperplasia: Evidence for increasing 3β-HSD activity with age. Pediatrics 1971;48:756-765
88. Parks GA, Bermudez JA, Anast CS, Bongiovanni AM, New MI. Pubertal boy with the 3β-hydroxysteroid dehydrogenase defect. J Clin Endocrinol Metab 1971;33:269-278
89. Zachmann M, Vollmin JA, Murset G, Curtius HC, Prader A. Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3-β-hydroxysteroid dehydrogenase: Case report of a surviving girl and steroid studies. J Clin Endocrinol Metab 1970;30:719-726
90. Gendrel D, Chaussain JL, Roger M, Job JC. [Congenital adrenal hyperplasia due to blockade of 3-β-hydroxysteroid dehydrogenase]. Arch Fr Pediatr 1979;36:647-655
91. Nahoul K, Perrin C, Leymarie P, Job JC. [Elevated levels of plasma 4-ene steroids in a case of congenital deficiency of 3β-hydroxysteroid dehydrogenase]. Ann Endocrinol 1989;50:58-63
92. Rosenfield RL, Rich BH, Wolfsdorf JI, et al. Pubertal presentation of congenital delta 5-3 β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 1980;51:345-353
93. Cara JF, Moshang T Jr, Bongiovanni AM, Marx BS. Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-β-hydroxysteroid dehydrogenase deficiency. N Engl J Med 1985;313:618-621
94. Mendonca BB, Bloise W, Arnhold IJ, et al. Male pseudohermaphroditism due to nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency: Gender role change and absence of gynecomastia at puberty. J Steroid Biochem 1987;28:669-675
95. Pang S, Levine LS, Stoner E, et al. Nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. J Clin Endocrinol Metab 1983;56:808-818
96. Alos N, Moisan AM, Ward L, et al. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3β-hydroxysteroid dehydrogenase deficiency in 46 XX and 46 XY French Canadians: Evaluation of gonadal function after puberty. J Clin Endocrinol Metab 2000;85:1968-1974
97. Zachmann M, Forest MG, De Peretti E. 3β-Hydroxysteroid dehydrogenase deficiency: Follow-up study in a girl with pubertal bone age. Horm Res 1979;11:292-302
98. Yoshimoto M, Kawaguchi T, Mori R, et al. Pubertal changes in testicular 3β-hydroxysteroid dehydrogenase activity in a male with classical 3β-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation. Horm Res 1997;48:83-87
99. Mendonca BB, Russell AJ, Vasconcelos-Leite M, et al. Mutation in 3β-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. J Mol Endocrinol 1994;12:119-122
100. de Peretti E, Forest MG. Pitfalls in the etiological diagnosis of congenital adrenal hyperplasia in the early neonatal period. Horm Res 1982;16:10-22
101. Labrie F, Belanger A, Luu-The V, et al. Role of DHEA transformation into androgens and estrogens in peripheral intracrine tissues. In: Thijsser J, Nieuwenhuyse H, eds. DHEA: A Comprehensive Review. New York: Parthenon Publishing; 1999:69-103
102. Rosenfield RL, Barmach de Niepomniszsze A, Kenny FM, Genel M. The response to human chorionic gonadotropin (HCG) administration in boys with and without delta5-3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 1974;39:370-374
103. Labrie F. Intracrinology. Mol Cell Endocrinol 1991;78:C113-C118
104. Labrie F, Bélanger A, Cusan L, Candas B. Physiological changes in dehydroepiandrosterone are not reflected by serum levels of active androgens and estrogens but of their metabolites: Intracrinology. J Clin Endocrinol Metab 1997;82:2403-2409
105. Labrie F, Belanger A, Cusan L, Gomez JL, Candas B. Marked decline in serum concentrations of adrenal C19 sex steroid precursors and conjugated androgen metabolites during aging. J Clin Endocrinol Metab 1997;82:2396-2402
106. Martel C, Melner MH, Gagne D, Simard J, Labrie F. Widespread tissue distribution of steroid sulfatase, 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3β-HSD), 17β-HSD 5 alpha-reductase and aromatase activities in the rhesus monkey. Mol Cell Endocrinol 1994;104:103-111
107. Zhang L, Mason JI, Naiki Y, et al. Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3β-hydroxysteroid dehydrogenase (3βHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3βHSD deficiency disorder. J Clin Endocrinol Metab 2000;85:1678-1685
108. Baker ME, Blasco R. Expansion of the mammalian 3β-hydroxysteroid dehydrogenase/plant dihydroflavonol reductase superfamily to include a bacterial cholesterol dehydrogenase, a bacterial UDP-galactose-4-epimerase, and open reading frames in vaccinia virus and fish lymphocystis disease virus. FEBS Lett 1992;301:89-93
109. Rheaume E, Sanchez R, Mebarki F, et al. Identification and characterization of the G15D mutation found in a male patient with 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency: Alteration of the putative NAD-binding domain of type II 3β-HSD. Biochemistry 1995;34:2893-2900
110. Lesk AM. NAD-binding domains of dehydrogenases. Curr Opin Struct Biol 1995;5:775-783
111. Scrutton NS, Berry A, Perham RN. Redesign of the coenzyme specificity of a dehydrogenase by protein engineering. Nature 1990;343:38-43
112. Simard J, de Launoit Y, Labrie F. Characterization of the structure-activity relationships of rat types I and II 3β-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase by site-directed mutagenesis and expression in HeLa cells. J Biol Chem 1991;266:14842-14845
113. Krozowski Z. 11b-Hydroxysteroid dehydrogenase and the short-chain alcohol dehydrogenase (SCAD) superfamily. Mol Cell Endocrinol 1992;84:C25-C31
114. Thomas JL, Nash WE, Myers RP, Crankshaw MW, Strickler RC. Affinity radiolabeling identifies peptides and amino acids associated with substrate binding in human placental 3β-hydroxy-delta(5)-steroid dehydrogenase. J Biol Chem 1993;268:18507-18512
115. Mebarki F, Sanchez R, Rheaume E, et al. Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3β-hydroxysteroid dehydrogenase gene. J Clin Endocrinol Metab 1995;80:2127-2134
116. Sanchez R, Mebarki F, Rheaume E, et al. Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia. Hum Mol Genet 1994;3:1639-1645
117. Sanchez R, Rheaume E, Laflamme N, et al. Detection and functional characterization of the novel missense mutation Y254D in type II 3β-hydroxysteroid dehydrogenase (3b HSD) gene of a female patient with nonsalt-losing 3βHSD deficiency. J Clin Endocrinol Metab 1994;78:561-567
118. Rheaume E, Sanchez R, Simard J, et al. Molecular basis of congenital adrenal hyperplasia in two siblingg'with classical nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 1994;79:1012-1018
119. Fisher R, Eades S, Taylor N. Two brothers with congenital adrenal hyperplasia due to partial 3β-hydroxysteroid dehydrogenase deficiency. Anal Clin Biochem 1988;25(suppl):133-135
120. Marui S, Torrealba IM, Russell AJ, Latronico AC, Sutcliffe RG, Mendonca BB. A novel homozygous nonsense mutations E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online. Hum Mutat 1998;12:139
121. Tajima T, Fujieda K, Nakae J, et al. Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency. Hum Mol Genet 1995;4:969-971
122. Simard J, Rheaume E, Leblanc JF, et al. Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin. Hum Mol Genet 1994;3:327-330
123. Zhang L, Sakkal-Alkaddour H, Chang YT, Yang X, Pang S. A new compound heterozygous frameshift mutation in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causes salt-wasting 3β-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 1996;81:291-295
124. Sutcliffe RG, Russell AJ, Edwards CR, Wallace AM. Human 3β-hydroxysteroid dehydrogenase: Genes and phenotypes. J Mol Endocrinol 1996;17:1-5
125. Marui S, Castro M, Latronico AC, et al. Mutations in type II 3β-Hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. Clin Endocrinol (Oxf) 2000;52:67-75
126. Chang Y, Wang J, Pang S. Molecular basis of the type II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase (3β-HSD) gene in patients with non-classic (late-onset) 3β-HSD deficiency congenital adrenal hyperplasia (CAH). Presented at the 75th Annual Endocrine Society Meeting, Las Vegas, June 1993
127. Nayak S, Lee PA, Witchel SF. Variants of the type II 3β-hydroxysteroid dehydrogenase gene in children with pre-mature pubic hair and hyperandrogenic adolescents. Mol Genet Metab 1998;64:184-192
128. Tajima T, Nishi Y, Takase A, et al. No genetic mutation in type II 3β-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency. Horm Res 1997;47:49-53
129. LaFont M. Le Déficit en 3β-ol-Déshydrogénase Chez L'enfant [Ph.D. thesis]. Lyon, France: Université Claude-Bernard-Lyon I; 1984
130. Zachmann M, Kempken B, Anner I, Pezzoli V. Age-related differences in the excretion of delta 5 steroids (D5S) in two related girls with 3β-hydroxysteroid dehydrogenase deficiency. Pediatr Res 1988;24:543
131. Park OK, Mayo KE. Transient expression of progesterone receptor messenger RNA in ovarian granulosa cells after the preovulatory luteinizing hormone surge. Mol Endocrinol 1991;5:967-978
132. Katsumata N, Tanae A, Yasunaga T, et al. A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency. Hum Mol Genet 1995;4:745-746
133. Yoshimoto M, Baba T, Yokoo T, et al. Case of salt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency: The first Japanese patient. Acta Paediatr Jpn 1988;92:1964-1970
134. Van Seters AP, Degenhart H, Moolenaar AJ. Biochemical concealment of 3βHSD deficiency by long-term steroid substitution. J Steroid Biochem 1989;36(suppl):174
135. Wolthers BG, de Vries IJ, Volmer M, Nagel GT. Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis. Clin Chim Acta 1987;169:109-116
136. McCartin S, Russell AJ, Fisher RA, et al. Phenotypic variability and origins of mutations in the gene encoding 3β-hydroxysteroid dehydrogenase type II. J Mol Endocrinol 2000;24:75-82
137. Chang YT, Kulin HE, Garibaldi L, et al. Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 1993;77:1251-1257
138. Babalola GO, Shapiro BH. Changes in the expression of cytochrome P450c17 associated with ovarian cystic follicles: An immunocytochemical and enzymatic analysis of porcine ovaries. J Steroid Biochem Mol Biol 1992;42:581-587
139. Barnes RB, Ehrmann DA, Brigell DF, Rosenfield RL. Ovarian steroidogenic responses to gonadotropin-releasing hormone agonist testing with nafarelin in hirsute women with adrenal responses to adrenocorticotropin suggestive of 3β-hydroxy-delta 5-steroid dehydrogenase deficiency. J Clin Endocrinol Metab 1993;76:450-455
140. Barnes RB, Rosenfield RL, Burstein S, Ehrmann DA. Pituitary-ovarian responses to nafarelin testing in the polycystic ovary syndrome. N Engl J Med 1989;320:559-565
141. Paula FJ, Dick-de-Paula I, Pontes A, et al. Hyperandrogenism due to 3β-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: A hormonal and metabolic evaluation. Braz J Med Biol Res 1994;27:1149-1158