46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency

Advances in Experimental Medicine and Biology

Volumn 707, Issue , 2011, Pages 9-14

  Inacio, Marlene ^b   Sircili, Maria Helena P ^b   Brito, Vinicius N ^b   Domenice, Sorahia ^b   Oliveira Junior, Ari Alves ^b   Arnhold, Ivo J P ^b   Tibor, Francisco D ^b   Costa, Elaine M F ^b   Mendonca, Berenice B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTANOLONE; ANDROSTENEDIONE; CHORIONIC GONADOTROPIN; ESTRADIOL; ESTROGEN; ESTRONE; LUTEINIZING HORMONE; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE;

ADULTHOOD; ANDROGEN DEFICIENCY; ANDROGEN THERAPY; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; DRUG MEGADOSE; ENDOCRINE FUNCTION TEST; ENZYME DEFICIENCY; ESTRADIOL BLOOD LEVEL; ESTROGEN THERAPY; ESTRONE BLOOD LEVEL; FAMILY HISTORY; FEMALE SOCIAL SEX; GENDER; GENDER IDENTITY; GENE; GENE MUTATION; GENITAL MALFORMATION; GONADECTOMY; GYNECOMASTIA; HERMAPHRODITISM; HETEROZYGOSITY; HOMOZYGOSITY; HSD17B3 GENE; HUMAN; HUMAN CHORIONIC GONADOTROPIN STIMULATION; KARYOTYPE 46,XY; LABORATORY DIAGNOSIS; LUTEINIZING HORMONE BLOOD LEVEL; MALE SOCIAL SEX; PENILE LENGTH; PENIS; PHENOTYPE; PREPUBERTY; PRIORITY JOURNAL; PUBERTY; REARING; SEX DIFFERENTIATION DISORDER; SEX ROLE; STEROID 5ALPHA REDUCTASE TYPE 2 DEFICIENCY; STEROIDOGENESIS; TESTIS; TESTOSTERONE 17BETA DEHYDROGENASE DEFICIENCY; TESTOSTERONE BLOOD LEVEL; UNIPARENTAL DISOMY; VIRILIZATION;

17-HYDROXYSTEROID DEHYDROGENASES; 3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; 46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; CHILD; FEMALE; HUMANS; KARYOTYPING; MALE; PHENOTYPE;

EID: 79960722793     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-8002-1_3     Document Type: Article

References (30)

1. Griffin, J. E., McPhaul, M. J., Russell, D. W., Wilson, J. D. et al.: The androgen resistance syndromes: Steroid 5-reductase 2 deficiency, testicular feminization, and related disorders. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The metabolic and molecular bases of inherited diseases, New York: McGraw-Hill, 3(8): 4117-4146, 2001
2. Hughes, I. A., Houk, C., Ahmed, S. F. et al.: Consensus statement on management of intersex disorders. Arch Dis Child, 91: 554, 2006
3. Saez, J. M., De Peretti, E., Morera, A. M. et al.: Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. J Clin Endocrinol Metab, 32: 604, 1971
4. Andersson, S., Moghrabi, N.: Physiology and molecular genetics of 17 beta-hydroxysteroid dehydrogenases. Steroids, 62: 143, 1997
5. Andersson, S., Geissler, W. M., Wu, L. et al.: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab, 81: 130, 1996
6. Lee, Y. S., Kirk, J. M., Stanhope, R. G. et al.: Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf), 67: 20, 2007
7. Mendonca, B. B., Inacio, M., Arnhold, I. J. et al.: Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore), 79: 299, 2000
8. Bertelloni, S., Maggio, M. C., Federico, G. et al.: 17Beta-hydroxysteroid dehydrogenase-3 deficiency: A rare endocrine cause of male-to-female sex reversal. Gynecol Endocrinol, 22: 488, 2006
9. Wilson, J. D.: Androgens, androgen receptors, and male gender role behavior. Horm Behav, 40: 358, 2001
10. Imperato-McGinley, J., Peterson, R. E., Gautier, T. et al.: Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. N Engl J Med, 300: 1233, 1979
11. Imperato-McGinley, J., Peterson, R. E., Stoller, R. et al.: Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: Gender role change with puberty. J Clin Endocrinol Metab, 49: 391, 1979
12. Rosler, A., Kohn, 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, 19: 663, 1983
13. Mendonca, B. B., Arnhold, I. J., Bloise, W. et al.: 17Beta-hydroxysteroid dehydrogenase 3 deficiency in women. J Clin Endocrinol Metab, 84: 802, 1999
14. Mendonca, B. B.: Male pseudohermaphroditism due to 5 alpha reductase 2 deficiency: Outcome of a Brazilian cohort. Endocrinologist, 13: 201, 2003
15. Rosler, A., Silverstein, S., Abeliovich, D.: A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. J Clin Endocrinol Metab, 81: 1827, 1996
16. Russell, D. W., Wilson, J. D.: Steroid 5 alpha-reductase: Two genes/two enzymes. Annu Rev Biochem, 63: 25, 1994
17. Thigpen, A. E., Silver, R. I., Guileyardo, J. M. et al.: Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. J Clin Invest, 92: 903, 1993
18. Wigley, W. C., Prihoda, J. S., Mowszowicz, I. et al.: Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme. Biochemistry, 33: 1265, 1994
19. Thigpen, A. E., Davis, D. L., Milatovich, A. et al.: Molecular genetics of steroid 5 alphareductase 2 deficiency. J Clin Invest, 90: 799, 1992
20. Andersson, S., Berman, D. M., Jenkins, E. P. et al.: Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature, 354: 159, 1991
21. Mendonca, B. B., Inacio, M., Costa, E. M. et al.: Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore), 75: 64, 1996
22. Imperato-McGinley, J., Guerrero, L., Gautier, T. et al.: Steroid 5alpha-reductase deficiency in man: An inherited form of male pseudohermaphroditism. Science, 186: 1213, 1974
23. Imperato-McGinley, J., Miller, M., Wilson, J. D. et al.: A cluster of male pseudohermaphrodites with 5 alpha-reductase deficiency in Papua New Guinea. Clin Endocrinol (Oxf), 34: 293, 1991
24. Wilson, J. D., Griffin, J. E., Russell, D. W.: Steroid 5 alpha-reductase 2 deficiency. Endocr Rev, 14: 577, 1993
25. Cohen-Kettenis, P. T.: Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav, 34: 399, 2005
26. Mendonca, B. B., Domenice, S., Arnhold, I. J. et al.: 46,XY disorders of sex development. Clin Endocrinol (Oxf), 70(2): 173-187. Review, 2009
27. Chavez, B., Valdez, E., Vilchis, F.: Uniparental disomy in steroid 5alpha-reductase 2 deficiency. J Clin Endocrinol Metab, 85: 3147, 2000
28. Imperato-McGinley, J.: 5 Alpha-reductase-2 deficiency. Curr Ther Endocrinol Metab, 6: 384, 1997
29. Imperato-McGinley, J., Peterson, R. E., Gautier, T. et al.: 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, 60: 553, 1985
30. Wisniewski, A. B., Mazur, T.: 46,XY DSD with female or ambiguous external genitalia at birth due to androgen insensitivity syndrome, 5alpha-reductase-2 deficiency, or 17betahydroxysteroid dehydrogenase deficiency: A review of quality of life outcomes. Int J Pediatr Endocrinol, 2009: 567430, 2009