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Steroid enzyme defects leading to male pseudohermaphroditism

  • Symposium: Intersex Disorders
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References

  1. Miller WL. Molecular biology of steroid hormone synthesis.Endocr Rev 1988; 9: 292–318.

    Google Scholar 

  2. Forest MG. Inborn error of testosterone biosynthesis. In: Josso N, ed.The Intersex Child. Pediat Adolesc Endocr 1981; vol. 8, pp. 133–155, Karger, Basel.

    Google Scholar 

  3. Duque C, Morisaki M, Ikekawa N, Shitkita M. The enzyme activity of bovine adrenocortical cytochrome P-450 producing pregnenolone from cholesterol: kinetic and electrophoretic studies of the reactivity of activity of hydroxycholesterol intermediates.Biochem Biophys Res Comm 1978; 82: 174–178.

    Article  Google Scholar 

  4. Takikawa O, Gomi T, Suhara K et al. Properties of an adrenal cytochrome P-450 (P-450scc) for the side chain cleavage of cholesterol.Archs Biochem Biophys 1978; 190: 300–306.

    Article  CAS  Google Scholar 

  5. Shikita M, Hall PF. Cytochrome P-450 from bovine adrenocortical mitochondria: an enzyme for the side chain cleavage of cholesterol. I. Purification and properties.J Biol Chem 1973; 248: 5596–5604.

    Google Scholar 

  6. Matteson KJ, Chung B, Urdea M, 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.

    PubMed  CAS  Google Scholar 

  7. Chung B, Matteson KJ, Voutilanen R et al. Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta.Proc Natl Acad Sci USA 1986; 83: 8962–8966.

    Article  PubMed  CAS  Google Scholar 

  8. Brutschy P. Hochgradige Lipoidhyperplasie beider Nebennieren mit herdförmigen Kalkablagerungen bei einem Fall von Hypospadias penisscrotalis und droppelseitigem Kryptorchismus mit unechter akzessorisher Nebenniere am rechten Hoden (Pseudohermaphroditismus masculinus externus).Frankf Z Path 1920; 24: 203–240.

    Google Scholar 

  9. Prader A, Gurtner HP. Das Syndrom des Pseudohermaphroditismus masculinus bei kongentaler Nebennierenrindenhyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus masculinus).Helv Paediatr Acta 1955; 10: 397–412.

    PubMed  CAS  Google Scholar 

  10. Prader A, Siebenmann, RE. Nebennierenin-suffieiznz bei kongenitaler Lipoidhyperplasie der Nebennieren.Helv Paeditr Acta 1957; 12: 569–595.

    CAS  Google Scholar 

  11. Prader A, Anders CJPA. Zur Genetik der kongenitalen Lipoidhyperplasie der Niebennieren.Helv Paediatr Acta 1962; 17: 285–289.

    PubMed  CAS  Google Scholar 

  12. Degenhart HJ. Prader's syndrome (congenital lipoid adrenal hyperplasia. In New MI, Levine LS, eds.Adrenal Diseases in Childhood. Pediatr Adolesc Endocr 1984; vol. 13: pp. 125–144. Karger, Basel.

    Google Scholar 

  13. Fox RR, Crary DD. Genetics and pathology of the hereditary congenital adrenal hyperplasia in the rabbit.J Hered 1978; 69: 251–254.

    PubMed  CAS  Google Scholar 

  14. Goldman AS. Production of congenital lipoid adrenal hyperplasia in rats and inhibition of cholesterol side chain cleavage.Endocrinology 1970; 86: 1245–1251.

    PubMed  CAS  Google Scholar 

  15. Hauffa BP, Miller WL, Grumbach MM et al. Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22 desmolase) in a patient treated for 18 years.Clin Endocr 1985; 23: 481–493.

    PubMed  CAS  Google Scholar 

  16. Koizumi S, Kyoya S, Miyawaki T et al. Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease).Clinica Chim Acta 1977; 77: 301–306.

    Article  CAS  Google Scholar 

  17. Morel Y, Picado-Leonard J, Wu DA et al. Assignment of the functional gene for adrenodoxin to chromosome 11q13->qter and of two adrenodoxin pseudogenes to chromosome 20cen->q 13.1Am J Hum Genet 1988; 43: 52–59.

    PubMed  CAS  Google Scholar 

  18. Chang CY, Wu DA, Lai CC, Miller WL. Cloning and structure of the human adrenodoxin gene.DNA 1988; 7: 609–616.

    PubMed  CAS  Google Scholar 

  19. Solish SB, Picado-Leonard J, Morel Y et al. Human adrenodoxin reductase: Two mRNAs encoded by a single gene on chromosome 17cen->q25 are expressed in steroidogenic tissues.Proc Natl Acad Sci USA 1988; 85: 7104–7108.

    Article  PubMed  CAS  Google Scholar 

  20. Ishii-Ohba H, Saiki N, Inano H, Tamaoki BI. Purification and characterization of rat adrenal 3β-hydroxysteroid dehydrogenase with steroid 5-ene-4ene-isomerase.J Steroid Biochem 1986; 24: 753–760.

    Article  PubMed  CAS  Google Scholar 

  21. Ishii-Ohba H, Inano H, Tamaoki B. Purification and properties of testicular 3β-hydroxy-5 ene-steroid dehydrogenase and 5-ene-4-ene-isomerase.J Steroid Biochem 1986; 25: 555–560.

    Article  PubMed  CAS  Google Scholar 

  22. Stalvey JRD, Meisler MH, Payne AH. Evidence that the same structural gene encodes testicular and adrenal 3β-hydroxysteroid dehydrogenase-isomerase.Biochem Genet 1987; 25: 181–190.

    Article  PubMed  CAS  Google Scholar 

  23. Bongiovanin AM. Adreno-genital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase.J Clin Invest 1962; 41: 2086–2092.

    Google Scholar 

  24. Perrone L, Criscuolo T, Sinisi AA et al. Male pseudohermaphroditism due to 3β-hydroxysteroid dehydrogenase deficiency associated with artial septal defect.Acta Endocr 1985; (Copenh) 110: 532–539.

    PubMed  CAS  Google Scholar 

  25. Schneider G, Genel M, Bongiovanni AM et al. Persistent testicular {ie511-1}-isomerase-3β-hydroxysteroid dehydrogenase ({ie511-2}-3β-HSD) deficiency in the {ie511-3}-3β-HSD form of congenital adrenal hyperplasia.J Clin Invest 1975; 55: 681–690.

    PubMed  CAS  Google Scholar 

  26. Bongiovanni AM. Acquired adrenal hyperplasia: with special reference to 3β-hydroxysteroid dehydrogenase.Fertil Steril 1981; 35: 599–608.

    PubMed  CAS  Google Scholar 

  27. Gendrel D, Chaussian JL, Roger M, Job JC. L’hyperplasie surrénale congénitale par bloc de la 3β-hydroxystéroide déshydrogénase.Arch Franc Pédiat 1979; 36: 647–655.

    PubMed  CAS  Google Scholar 

  28. 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.

    PubMed  CAS  Google Scholar 

  29. Pang S, Levine LS, Stone E et al. Non saltlosing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function.J Clin Endocrinol Metab 1983; 56: 808–818.

    PubMed  CAS  Google Scholar 

  30. Peretti E de, Forest MG, Feit JP, David M. Endocrine studies in two children with male pseudohermaphroditism due to 3β-hydroxysteroid dehydrogenase defect. In: Genazzani AR, Thijssen JHH, Siiteri PK, eds.Adrenal Androgens, New York: Raven Press, 1980; pp. 141–145.

    Google Scholar 

  31. Mendonca B, Bloise W, Arnhold I et al. Male pseudohermaphroditism due to 3β-hydroxysteroid dehydrogenase deficiency without clinical salt losing in two adult cousins.J Steroid Biochem 25 supp. 1986; 1; 20S (abst 52).

    Article  Google Scholar 

  32. Cravioto MAC del, Ulloa-Aguirre A, Bermudez JA et al. A new inherited variant of 3β-hydroxysteroid dehydrogenase-isomerase deficiency syndrome: evidence for the existence of two isoenzymes.J Clin Endocrinol Metab 1987; 62: 360–367.

    Google Scholar 

  33. Zachmann M, Forest MG, Peretti E de. 3β-hydroxysteroid dehydrogenase deficiency: followup studies in a girl with pubertal bone age.Horm Res 1979; 11: 292–302.

    PubMed  CAS  Google Scholar 

  34. Pang S, Lerner AJ, Stoner LS. 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.

    PubMed  CAS  Google Scholar 

  35. Temek JW, Pang S, Nelson C, New MI. Genetic defects of steroidogenesis in premature pubarche.J Clin Endocrinol Metab 1987; 64: 609–617.

    Google Scholar 

  36. Parks GA, Bermudez JA, Anast CS et al. A pubertal boy with a 3β-hydroxysteroid dehydrogenase defect.J Clin Endocrinol Metab 1971; 38: 269–278.

    Google Scholar 

  37. Jänne O, Perheentupa J, Viinikka L, Vihko R. Testicular endocrine function in a pubertal boy with a 3β-hydroxysteroid dehydrogenase deficiency.J Clin Endocrinol Metab 1974; 39: 206–209.

    PubMed  Google Scholar 

  38. Martin F, Perheentupa J, Adlerkreutz H. Plasma and urinary androgens and oestrogens in a pubertal boy with 3β-hydroxysteroid dehydrogenase deficiency.J Steroid Biochem 1980; 13: 197–201.

    Article  PubMed  CAS  Google Scholar 

  39. Kenny FM, Reynolds JW, Green OC. Partial 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency in a family with congential adrenal hyperplasia: evidence for increasing 3β-HSD activity with age.Pediatrics 1971; 58: 756–765.

    Google Scholar 

  40. Cara JF, Moshang T Jr, Bongiovanni AM, Marx BS. Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3β-hydroxysteroid dehydrogenase deficiency.New Engl J Med 1985; 313: 618–621.

    Article  PubMed  CAS  Google Scholar 

  41. Rosenfield RL, Barmach de Niepmniszshe A, Kenny FM, Genel M. The response to human chonionic gonadotropin (hCG) administration in boys with and without {ie512-1} dehydrogenase deficiency.J Clin Endocrinol Metab 1974; 39: 370–374.

    PubMed  CAS  Google Scholar 

  42. Mantero F, Scaroni C. Enzymatic defects of steroidogenesis: 17α-hydroxylase. In: New MI, Levine LS, eds. Adrenal diseases in Childhood,Pediatr Adolesc Endocr 1984; Vol. 13 pp. 83–94 Karger, Basel.

    Google Scholar 

  43. Zachmann M, Prader A. 17, 20-desmolase deficiency. In: New MI, Levine LS, eds. Adrenal diseases in Childhood.Pediatr Adolec Endocrinol 1984; Vol. 13: 95–109 Karger, Basel.

    Google Scholar 

  44. Nakajin S, Shinoda M, Haniu M et al. C21 steroid side cleavage enzyme from porcine adrenal microsomes. Purification and characterization of the 17α-hydroxylase/17,20-lyase cytochrome P-450.J Biol Chem 1984; 259: 3971–3976.

    PubMed  CAS  Google Scholar 

  45. Picado-Leonard J, Miller WL. Cloning and sequence of the human gene for P-450c17 (steroid 17α-hydroxylase/17,20-lyase): similarity with the gene for P450c21.DNA 1987; 6: 439–448.

    PubMed  CAS  Google Scholar 

  46. Matteson KJ, Picado-Leonard J, Chung BC et al. Assignment of the gene for adrenal P450c17 (steroid 17α-hydroxylase/17,20-lyase) to human chromosome 10.J Clin Endocrinol Metab 1986; 63: 789–791.

    PubMed  CAS  Google Scholar 

  47. Voutilainen R, Tapanainen J, Chung BC et al. Hormonal regulation of P450scc (20, 22 desmolase) and P450c17 (17α-hydroxylase/17,20-lyase) in cultured human granulosa cells.J Clin Endocrinol Metab 1986; 63: 202–207.

    PubMed  CAS  Google Scholar 

  48. Voutilainen R, Miller WL. Developmental and hormonal regulation of mRNA's for insulin-like growth factor II and steroidogenic enzymes in human fetal adrenals and gonads.DNA 1988; 7: 9–15.

    PubMed  CAS  Google Scholar 

  49. Diblasio AM, Voutilainen R, Jaffe RB, Miller WL: Hormonal regulation of MRNAs for P450scc (cholesterol-side-chain cleavage enzyme) and P450c17 (17α-hydroxylase/17, 20-lyase) in cultured human fetal adrenal cells.J Clin Endocrinol Metab 1987; 65: 170–175.

    CAS  Google Scholar 

  50. Schiebinger RJ, Albertson BD, Cassorla FG et al. The developmental changes in plasma adrenal androgens during infancy and adrenarche are associated with changing activities of adrenal microsomal 17-hydroxylase and 17–20 desmolase.J Clin Invest 1981; 67: 1177–1182.

    PubMed  CAS  Google Scholar 

  51. Voutilainen R, Miller WL. Developmental expression of genes for the steroidogenic enzymes P450scc (20, 22 desmolase), P450c 17 (17α-hydroxylase/17, 20-lyase), and P450c21 (21-hydroxylase) in the human fetus.J Clin Endocrinol Metab 1986; 63: 1145–1150.

    PubMed  CAS  Google Scholar 

  52. Erikson GF, Magoffin DA, Dyer CA, Hofeditz C. The ovarian androgen producing cells: A review of structure/function relationships.Endocr Rev 1985; 6: 371–379.

    Google Scholar 

  53. Chung B, Picado-Leonard J, Haniu M et al. Cytochrome P450c17 (steroid 17α-hydroxylase/17, 20-lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.Proc Natl Acad Sci USA 1987; 84: 407–411.

    Article  PubMed  CAS  Google Scholar 

  54. Bosson D, Wolter R, Toppet M et al. Partial 17, 20-desmolase and 17α-hydroxylase deficiencies in a 16-year-old boy.J Endocrinol Invest 1988; 11: 527–533.

    PubMed  CAS  Google Scholar 

  55. Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man.J Clin Invest 1966; 45: 1946–1954.

    PubMed  CAS  Google Scholar 

  56. New MI. Male pseudohermaphroditism due to 17α-hydroxylase deficiency.J Clin Invest 1970; 49: 1930–1941.

    PubMed  CAS  Google Scholar 

  57. Dean RJ, Shackleton CHL, Winter JSD. Diagnosis and natural history of 17-hydroxylase deficiency in a newborn male.J Clin Endocrinol Metab 1984; 59: 513–520.

    PubMed  CAS  Google Scholar 

  58. Biglieri EG. Mechanisms establishing the mineralocorticoid hormone patterns in the 17α-hydroxylase deficiency syndrome.J Steroid Biochem 1979; 11: 653–657.

    Article  PubMed  CAS  Google Scholar 

  59. Bricaire H, Luton JP, Laudat P et al. A new male pseudohermaphroditism associated with hypertension due to a block of 17α-hydroxylation.J Clin Endocrinol Metab 1972; 35: 67–71.

    PubMed  CAS  Google Scholar 

  60. Tourniaire J, Audi-Parera L, Loras B et al. Male pseudohermaphroditism with hypertension due to 17α-hydroxylation deficiency.Clin Endocrinol 1976; 5: 53–61.

    CAS  Google Scholar 

  61. Waldhäusl W, Herkner K, Nowotny P, Bratusch-Marrian P. Combined 17α-and 18-hydroxylase deficiency associated with complete male pseudohermaphroditism and hypoaldosteronism.J Clin Endocrinol Metab 1978; 46: 236–246.

    PubMed  Google Scholar 

  62. Kater CE, Biglieri EG, Brust N et al. The unique pattern of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17α-hydroxylase deficiency syndrome.J Clin Endocrinol Metab 1982; 55: 295–302.

    PubMed  CAS  Google Scholar 

  63. Winter JSD, Couch RM, Muller J et al. Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.J Clin Endocrinol Metab 1989; 68: 309–316.

    PubMed  CAS  Google Scholar 

  64. D'Armiento M, Reda G, Kater C, Shackleton CHL, Biglieri EG. 17α-hydroxylase deficiency: mineralocorticoid hormone profiles in an affected family.J Clin Endocrinol Metab 1983; 56: 697–701.

    PubMed  Google Scholar 

  65. Hammerstein J, Zielske F, Distler A, Wolff HP. 17α-hydroxylase deficiency of the gonads and adrenals in a male pseudohermaphrodite.Acta Endocr (Copenh) Suppl. 1973; 173: 76A.

    Google Scholar 

  66. Salti IS, Hajj H, Dhib-Jalbut S. Testicularin vitro conversion of progesterone to testosterone and androstenedione in 17α-hydroxylase deficiency.J Steroid Biochem 1982; 17: 155–157.

    Article  PubMed  CAS  Google Scholar 

  67. Peretti E de, Cadillon E. In vitro testicular biosynthesis in two cases of 17α-hydroxylase deficiency.65th Meeting of the Endocrine Society 1983; Abst. 944.

  68. Vargas A, Reiter EO, Kula R et al. Direct determination of 17α-hydroxylase (17OHase) deficiency in a male pseudohermaphrodite byin vitro studies of testicular steroid biosynthesis.Pediatr Res 1981; 15: 515.

    Article  Google Scholar 

  69. Bradshaw KD, Wareman MR, Couch RT et al. Characterization of complementary deoxyribonucleic acid for human adrenocortical 17α-hydroxylase: a probe for analysis of 17α-hydroxylase deficiency.Mol Endocrinol 1987; 1: 348–354.

    PubMed  CAS  Google Scholar 

  70. Kagimoto M, Winter JSD, Kagimoto K et al. Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency.Mol Endocrinol 1988; 2: 564–570.

    PubMed  CAS  Google Scholar 

  71. Yanase T, Kagimoto M, Matsui N et al. Combined 17α-hydroxylase/17, 20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450.Mol Cell Endocr 1988; 59: 249–253.

    Article  CAS  Google Scholar 

  72. Zachmann M, Werder EA, Prader A. Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency.J Clin Endocrinol Metab 1982; 55: 487–490.

    PubMed  CAS  Google Scholar 

  73. Forest MG, Lecornu M, Peretti E de. Familial male pseudohermaphroditism due to 17, 20-desmolase deficiency. I.In vivo studies.J Clin Endocrinol Metab 1980; 50: 826–833.

    PubMed  CAS  Google Scholar 

  74. Larrea F, Lisker R, Bânuelos R et al. Hypergonadotrophic hypogonadism in an XX female subject due to 17, 20-desmolase deficiency.Acta Endocrinol (Copenh) 1983; 103: 400–405.

    CAS  Google Scholar 

  75. Peretti E de, Pradon M, Forest MG. 17,20-desmolase deficiency in a female newborn paradoxically virilizedin utero:J Steroid Biochem 1984; 20: 455–458.

    Article  PubMed  Google Scholar 

  76. Peretti E de, Cadillon E, Forest MG.In vitro studies in testicular 17,20-desmolase deficiency.63rd Meeting of the Endocr Soc 1981; 97 (abst. 58).

    Google Scholar 

  77. Chasalow F, Bletsen SL, Knight SM, Taysi K. 18q deletion syndrome in a child with steroid 17,20-lyase deficiency.Steroids 1986; 47: 421–429.

    Article  PubMed  CAS  Google Scholar 

  78. Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C. Male pseudohermaphroditism due to multiple defects in steroid-biosynthesic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.New Engl J Med 1985; 313: 1182–1191.

    Article  PubMed  CAS  Google Scholar 

  79. Gleispash H, Berger H, Glatzl J, Roessler H. Adrenogenital-Syndrom: 21-hydroxylaemangel kombiniert mit 17-desmolasemangel.Päd Pädol 1974; 9: 266–270.

    Google Scholar 

  80. Inano H, Ohba H, Tamaoki B. Porcine testicular 17β-hydroxysteroid dehydrogenase: affinity chromatography with dye-ligand agarose and demonstration of multiple forms of the enzyme.J Steroid Biochem 1981; 6: 291–296.

    Google Scholar 

  81. Tremblay Y, Ringler GE, Morel Y et al. Tissue-specific and hormonal regulation of mRNA for 17-ketosteroid reductase.71st Meeting of the Endocr Soc 1989; 27: Program and Abstracts, 17.

    Google Scholar 

  82. The VL, Leblanc G, Cote J et al. DNA structure and predicted amino sequence of human estradiol 17β-dehydrogenase.71st Meeting of the Endocr Soc 1989; 34: Program and Abstracts 48.

  83. Neher R, Kahnt FW. Gonadal steroid biosynthesisin vitro in four cases of testicular feminization. In: Vermeulen A, Exley D, eds. Androgens in normal and pathological conditions.Excerpta Medica Intern Congress Ser 1965; vol. 101: 130–136.

  84. Peretti E de, Saez JM, Bertrand J. Familial male pseudohermaphroditism (MPH) due to 17-ketosteroid reductase defect. In vitro study and testicular incubation.Excerpta Med Int Congr Ser. 1970; 210: 205.

    Google Scholar 

  85. Saez JM, Peretti E de, Morera AM et al. Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect I. Studies in vivo.J Clin Endocrinol Metab 1971; 32: 604–610.

    PubMed  CAS  Google Scholar 

  86. Forest MG. Les pseudo-hermaphrodismes masculins par déficit en 17-cétostéroide réductase. In: Chaussain JL, Roger M, eds.Les ambiguités sexuelles. SEPE, Paris, 1988; pp. 97–131.

    Google Scholar 

  87. Rösler A, Kohn G. Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency; studies on the natural history of the defect and effect of androgens on gender role.J Steroid Biochem 1983; 19: 663–674.

    Article  PubMed  Google Scholar 

  88. Wilson SC, Hodgins MB, Scott JS. Incomplete masculinization due to a deficiency of 17β-hydroxysteroid dehydrogenase: comparison of pubertal and peripubertal siblings.Clin Endocr 1987; 26: 459–469.

    PubMed  CAS  Google Scholar 

  89. Gross DJ, Landau H, Kohn G et al. Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Gender reassignment in early infancy.Acta Endocr (Copenh) 1986; 112: 238–246.

    CAS  Google Scholar 

  90. Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE. Male pseudohermaphroditism secondary to 17-hydroxysteroid dehydrogenase deficiency: gender role change with puberty.J Clin Endocrinol Metab 1979; 49: 391–395.

    Article  PubMed  CAS  Google Scholar 

  91. Forest MG, Nivelon-Chevallier A, Tenenbaum D, Nivelon JL. Familial 17-ketosteroid reductase (17-KSR) deficiency: postnatal and prenatal diagnosis.67th Meeting of the Endocr Soc 1985; 89: Program and Abstracts, 354.

    Google Scholar 

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  1. INSERM, U.329, Hôpital Debrousse 69322, Lyon Cedex 05, France

    Maguelone G. Forest

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This article is based on the presentation in the “International Workshop on Recent Advances in Neonatal Surgery and Intersex Disorders” held at All India Institute of Medical Sciences, New Delhi from March 1–4, 1989. It was accepted for publication in 1991.

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Forest, M.G. Steroid enzyme defects leading to male pseudohermaphroditism. Indian J Pediatr 59, 501–514 (1992). https://doi.org/10.1007/BF02751568

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