Male pseudohermaphroditism due to 5α-reductase-2 deficiency in an Arab kindred

Postgraduate Medical Journal

Volumn 73, Issue 866, 1997, Pages 802-807

  Al Attia, Haider M ^a  

^a MAFRAQ HOSPITAL   (United Arab Emirates)

Author keywords

5 reductase deficiency; Arabs; Pseudohermaphroditism

Indexed keywords

STEROID 5ALPHA REDUCTASE;

ADOLESCENT; ADULT; ARAB; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; HUMAN; HYPOSPADIAS; MALE; MALE PSEUDOHERMAPHRODITISM; OMAN; PENIS; PUBERTY; URETHRA; VAGINA;

EID: 0030657044     PISSN: 00325473     EISSN: None     Source Type: Journal    
DOI: 10.1136/pgmj.73.866.802     Document Type: Article

References (28)

1. Peterson RE, Imperato-McGinley J, Gautier T, Sturla E. Male pseudohermaphroditism due to steroid 5 alpha reductase deficiency. Am J Med 1977; 62: 170-91.
2. Imperato-McGinley J, Peterson RE, Gautier T, Sturla E. Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5 alpha reductase deficiency. N Engl J Med 1979; 300: 1213-5.
3. Izquierdo G, Classberg K. Gender assignment and gender identity in patients with ambiguous genitalia. Urology 1993; 42: 232-42.
4. Griffin JE. Androgen resistance - the clinical and molecular spectrum. N Engl J Med 1992; 326: 611-8.
5. Russell DW, Wilson JD. Steroid 5 alpha reductase; Two genes? Two enzymes. Annu Rev Biochem 1994; 63: 25-61.
6. Ng WK, Taylor NF, Hughes IA, Taylor J, Ransley PG, Grant DB. 5-Alpha reductase deficiency without hypospadias. Arch Dis Child 1990; 65: 1166-7.
7. Ivarsson SA, Damkjear Nielsen M, Lindberg T. Male pseudohermaphroditism due to 5 alpha reductase deficiency in a Swedish family. Eur J Pediatr 1988; 147: 532-5.
8. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE. Steroid 5 alpha reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 1974; 186: 1213-5.
9. Imperato-McGinley J, Miller M, Wilson JD, Peterson RE, Shackleton C, Gajdusek DC. A cluster of male pseudohermaphrodites with 5 alpha reductase deficiency in Papua New Guinea. Clin Endocrinol 1991; 34: 293-5.
10. Mendonca BB, Inacio M, Costa EMF, et al. Male pseudhermaphroditism due to 5 alpha reductase-2 deficiency: diagnosis, psychological evaluation, and management. Medicine 1996; 75: 64-76.
11. Akgun S, Ertel NH, Imperato-McGinley J, et al. Familial male pseudohermaphroditism due to 5 alpha reductase deficiency in a Turkish village. Am J Med 1986; 81: 267-74.
12. Pinsky L, Kaufman M, Straisfeld C, Zilah B, Hall CStG. 5-Alpha reductase activity of genital and nongenital skin fibroblasts from patients with 5 alpha reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism. Am J Med Genet 1978; 1: 407-16.
13. Wigley WC, Pirhoda JS, Mowszowicz I, Mendonca BB, New ML, Wilson JD. Natural mutagenesis study of the human steroid 5 alpha reductase 2 isozyme. Biochemistry 1994; 33: 1265-70.
14. Thigpen AE, Silver RI, Guileyardo JM, Casey ML, McConnell JD, Russell DW. Tissue distribution and ontogeny of steroid 5 alpha reductase isozyme expression. J Clin Invest 1993; 92: 903-10.
15. Wilson JD, Griffin JE, Russell DW. Steroid 5 alpha reductase-2 deficiency. Endocr Rev 1993; 14: 577-93.
16. Imperato-McGinley J, Leshin M. Steroid 5 alpha reductase deficiency in a 65-year old male pseudohermaphrodite. The natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity. J Clin Endocrinol Metab 1980; 50: 15-22.
17. Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C. Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5 alpha reductase deficiency. Clin Endocrinol 1985; 23: 43-53.
18. Imperato-McGinley J, Peterson RE, Gautier T, et al. Hormonal evaluation of large kindred with complete androgen insensitivity; evidence for secondary 5 alpha reductase deficiency. J Clin Endocrinol Metab 1982; 54: 931-41.
19. Jukier L, Kaufman M, Pinsky L, Peterson RE. Partial androgen resistance associated with 5 alpha reductase deficiency. Identification of a novel qualitative androgen receptor defect and clinical implications. J Clin Endocrinol Metab 1984; 59: 679-88.
20. Imperato-McGinley J, Peterson RE, Gautier T, Arthur A, Shackleton C. Decreased urinary C19 and C21 steroid 5 alpha metabolites in parents of male pseudohermaphrodites with 5 alpha reductase deficiency: detection of carriers. J Clin Endocrinol Metab 1985; 60: 553-8.
21. Schweikert HU. The androgen resistance syndromes: Clincal and biochemical aspects. Eur J Pediarr 1993; 152 (suppl 2): 50-7.
22. Hsu LYF, Benn PA, Tannenbaum H, Perlis TE, Carlson AD. Chromosomal polymorphism of 1, 9, 16, and Y in major ethnic groups. Am J Med Genet 1987; 26: 96-101.
23. Davis RM. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 1981; 18: 161-95.
24. Skare J, Drwinga H, Wyandt H, Van der Spek J, Troxler R, Milunsky A. Interstitial deletion invoking most of Yq. Am J Med Genet 1990; 36: 394-7.
25. Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J Med Genet 1993; 30: 918-22.
26. Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE. Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J Clin Endocrinol Metab 1979; 49: 391-5.
27. Rosier A, Khon G. Male pseudohermaphroditism due to 17 beta hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role. J Steroid Biochem 1983; 19: 663-74.
28. Mendonca BB, Bloise W, Arnhold IJP, et al. Male pseudohermaphroditism due to nonsalt-losing 3 beta hydroxysteroid dehydrogenase deficiency: gender change and absence of gynecomastia at puberty. J Steroid Biochem 1987; 28: 669-75.