A (R80Q) mutation in 17β-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 5, 1996, Pages 1827-1831

  Rösler, Ariel ^a   Silverstein, Shira ^a   Abeliovich, Dvorak ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTANOLONE; ANDROSTENEDIONE; ESTRADIOL; ESTRONE; ISOENZYME; PRASTERONE; TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 9Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; ENZYME DEFICIENCY; FAMILY STUDY; GENE MUTATION; HOMOZYGOSITY; HORMONE BLOOD LEVEL; HUMAN; HUMAN CELL; MALE; MALE PSEUDOHERMAPHRODITISM; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOIMMUNOASSAY;

17-HYDROXYSTEROID DEHYDROGENASES; ALLELES; BASE SEQUENCE; EXONS; FEMALE; HOMOZYGOTE; HUMANS; ISOENZYMES; ISRAEL; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; PSEUDOHERMAPHRODITISM; SAUDI ARABIA; TESTIS;

EID: 0029940067     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.5.1827     Document Type: Article

References (30)

1. Grumbach, MM, Conte FA. 1992 Disorders of sex differentiation. In: Wilson JD, Foster DW, eds. Williams' textbook of endocrinology. Philadelphia: Saunders; 853-951.
2. New MI, White PC, Pang S, Dupont B, Speiser PW. 1989 The adrenal hyperplasias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. Part II, 6th ed. New York: McGraw-Hill; 1881-1919.
3. Wilson JD, Griffin JE, Russell DW. 1993 Steroid 5α-reductase 2 deficiency. Endocr Rev. 14:577-593.
4. Viridis R, Saenger P. 1984 17β-Hydroxysteroid dehydrogenase deficiency. In: New MI, Levine LS, eds. Adrenal diseases in childhood - pathophysiologic and clinical aspects. Pediatric and adolescent endocrinology. Basel: Karger; vol 13:110-124.
5. Forest MG. 1988 Les pseudo-hermaphrodismes masculins par déficit en 17-cétosteroide réductase. In: Chaussain JL, Roger M, eds. Les ambiguïtés sexuelles (actualités en endocrinologié pédiatrique). Paris: Editions SEPE; 97-131.
6. Rösier A, Kohn G. 1983 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. 19:663-674.
7. Kohn G, Lasch EE, El-Shawwa R, Elrayyes E, Litvin Y, Rösler A. 1985 Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency (17β-HSD) in a large Arab kinship. Studies on the natural history of the defect. J Pediatr Endocrinol. 1:29-37.
8. Rösler A. 1992 Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: an inherited form of male pseudohermaphroditism. J Steroid Biochem Mol Biol. 43:989-1002.
9. Inano H, Tamaoki B. 1986 Testicular 17β-hydroxysteroid dehydrogenase: molecular properties and reaction mechanisms. Steroids. 48:3-26.
10. Oshima H, Fan DF, Troen P. 1975 Studies of the human testis. V. Properties of Δ5-3β and 17β-hydroxysteroid dehydrogenase in the biosynthesis of testosterone from dehydroepiandrosterone. J Clin Endocrinol Metab. 40:537-581.
11. Murdock GL, Chin CC, Offord RE, Bradshaw RA, Warren JC. 1983 Human placental estradiol 17β-dehydrogenase. J Biol Chem. 258:11460-11464.
12. Poutanen M, Miettinen M, Vihko R. 1993 Differential estrogen substrate specificities for transiently expressed human placental 17β-hydroxysteroid dehydrogenase and an endogenous enzyme expressed in cultured COS-m6 cells. Endocrinology. 133:2639-2644.
13. Luu-The V, Labrie C, Zhao HF, et al. 1989 Characterization of cDNA for human estradiol 17β-dehydrogenase and assignment of the gene to chromosome 17: evidence of two mRNA species with distinct 5′-termini in human placenta. Mol Endocrinol. 3:1301-1309.
14. Luu-The V, Labrie C, Simard J, et al. 1990 Structure of two tandem human 17β-hydroxysteroid dehydrogenase genes. Mol Endocrinol. 4:268-275.
15. Wu, L, Einstein M, Geissler WM, Chan HK, Elliston KO, Anderson S. 1993 Expression cloning and characterization of human 17β-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20α-hydroxysteroid dehydrogenase activity. J Biol Chem. 268:12964-12969.
16. Geissler WM, Davis DL, Wu L, et al. 1994 Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3. Nature Genet. 7:34-39.
17. Leenders F, Husen B, Thole HH, Adamski J. 1994 The sequence of porcine 80 kDa 17β-estradiol dehydrogenase reveals similarities to the short chain alcohol dehydrogenase family, to actin binding motifs and to sterol carrier protein 2. Mol Cell Endocrinol. 104:127-131.
18. Adamski J, Normand T, Leenders F, et al. Molecular cloning of a novel, widely expressed 80 kDa 17β-hydroxysteroid dehydrogenase IV in human and mouse [Abstract P3-616]. Proc of the 77th Annual Meet of The Endocrine Soc. 1995.
19. Gross DJ, Landau H, Kohn G, et al. 1986 Male pseudo-hermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy. Acta Endocrinol (Copenh). 112:238-246.
20. Eckstein B, Cohen S, Farkas A, Rösler A. 1989 The nature of the defect in male pseudohermaphroditism in Arabs of Gaza. J Clin Endocrinol Metab. 68:477-485.
21. Rösler A, Bélanger A, Labrie F. 1992 Mechanisms of androgen production in male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 75:773-778.
22. Lashansky G, Saenger P, Fishman K, et al. 1991 Normative data for adrenal steroidogenesis in a healthy pediatric population: age- and sex-related changes after adrenocorticotropin stimulation. J Clin Endocrinol Metab. 73:674-686.
23. Abeliovich D, Lavon IP, Lerer I, et al. 1992 Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 51:951-956.
24. Pang S, Softness B, Sweeney III WJ, New MI. 1987 Hirsutism, polycystic ovarian disease, and ovarian 17-ketosteroid reductase deficiency. N Engl J Med. 316:1295-1301.
25. Toscano V, Balducci R, Bianchi P, Mangiantini A, Sciarra F. 1990 Ovarian 17-ketosteroid reductase deficiency as a possible cause of polycystic ovarian disease. J Clin Endocrinol Metab. 71:288-292.
26. Goebelsmann U, Norton R, Mastan JH, et al. 1973 Male pseudohermaphroditism due to testicular 17β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 36:867-879.
27. Martel C, Rhéaume E, Takahashi M, et al. 1992 Distribution of 17β-hydroxysteroid dehydrogenase gene expression and activity in rat and human tissues. J Steroid Biochem Mol Biol. 41:597-603.
28. Taha SA. 1994 Male pseudohermaphroditism: factors determining the gender of rearing in Saudi Arabia. Urology. 43:370-374.
29. Yahav JA. 1994 Statistical abstracts of Israel. Central Bureau of Statistics. Jerusalem: Unigraph Ltd.; vol 45:786-787.
30. Nivelon JL, Forest MG, Nivelon-Chevalier A, Sidaner I, Dauvergne M, Tenenbaum D. 1987 Deuxième diagnostic prénatal dans une forme familiale de pseudo-hermaphroditisme masculin par déficit en 17-cétoréductase. Prédiction confirmée d'un troiséme enfant mâle normal. J Genet Hum. 35:159-163.