17β-Hydroxysteroid dehydrogenase 3 deficiency

Trends in Endocrinology and Metabolism

Volumn 7, Issue 4, 1996, Pages 121-126

  Andersson, Stefan ^b   Russell, David W ^b   Wilson, Jean D ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

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

ENZYME DEFICIENCY; FAMILY STUDY; FRAMESHIFT MUTATION; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PUBERTY; SEX DIFFERENTIATION DISORDER; SHORT SURVEY; TESTOSTERONE METABOLISM; VIRILIZATION;

EID: 0030001014     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/1043-2760(96)00034-3     Document Type: Short Survey

References (39)

1. Adamski J, Normand T, Leenders F, et al.: 1995. Molecular cloning of a novel widely expressed human 80 kDa 17β-hydroxysteroid dehydrogenase IV. Biochem J 311:437-443.
2. Akesode FA, Meyer III WJ, Migeon CJ: 1977. Male pseudo-hermapharoditism with gyaenocomastia due to testicular 17-ketosteroid reductase deficiency. Clin Endocrinol (Oxf) 7:443-452.
3. Andersson S: 1995. 17β-hydroxysteroid dehydrogenase: isozymes and mutations. J Endocrinol 146:197-200.
4. Andersson S, Geissler WM, Wu L, et al.: 1996. Molecular genetics and pathophysiology of 17β-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab 81:130-136.
5. Arnhold IJP, Mendonca BB, Diaz JAP, et al.: 1988. Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association. J Endocrinol Invest 11:319-322.
6. Bentvelsen FM, McPhaul MJ, Wilson JD, George FW: 1994. The androgen receptor of the urogenital tract of the fetal rat is regulated by androgen. Mol Cell Endocrinol 105: 21-26.
7. Casey ML, MacDonald PC, Andersson S: 1994. 17β-Hydroxysteroid dehydrogenase type 2: chromosomal assignment and progestin regulation of gene expression in human endometrium. J Clin Invest 94:2135-2141.
8. Castro-Magana M, Angulu M, Uy J: 1991. Male hypogonadism with gynecomastia caused by late-onset deficiency of testicular 17-ketosteroid reductase deficiency. N Engl J Med 328: 1297-1301.
9. de Perettil E, Cadillon E, Bertrand J: 1979. Étude de la biosynthèse testiculaire in vitro dans quatre cas de pseudo-hermaphrodisme male par déficit en 17-cétoreductase. Ann Endocrinol (Paris) 40:547-548.
10. Eckstein B, Cohen S, Farkas S, Rösler A: 1989. The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza. J Clin Endocrinol Metab 64:477-485.
11. Forest MG, de Peretti E, Campo-Paysaa A: 1979. Cas familial de pseudohermaphrodisme masculin par déficit en 17-cétoreductase: diagnostic tardif chez la tante d'un sujet porteur du même déficit. Ann Endocrinol (Paris) 40:545-546.
12. Gast MJ, Sims HF, Murdock GL, Gast PM, Strauss AW: 1989. Isolation and sequencing of a complementary deoxyribonucleic acid clone encoding human placental 17β-estradiol dehydrogenase: identification of the putative cofactor binding site. Am J Obstet Gynecol 161:1726-1731.
13. Geissler WM, Davis DL, Wu L, et al.: 1994. Male pseudo-hermaphroditism caused by mutations of testicular 17β-hydroxy-steroid dehydrogenase 3. Nat Genet 7:34-39.
14. George FW, Wilson JD: 1994. Sex determination and differentiation. In Knobil E, Neill JD, eds. The Physiology of Reproduction, 2nd ed. New York, Raven, pp. 3-28.
15. Goebelsmann U, Hall TD, Paul WL, Stanczyk FZ: 1975. In vitro steroid metabolic studies in testicular 17β-reductase deficiency. J Clin Endocrinol Metab 43:457-461.
16. Griffin JE, Wilson JD: 1992. Disorders of sexual differentiation. In Walsh PC, Resnik AB, Stamey TA, Vaughan ED Jr, eds. Campbell's Textbook of Urology, 6th ed. Philadelphia, WB Saunders, pp. 1509-1542.
17. Gross DJ, Landau HK, Kohn G, et al.: 1986. Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy. Acta Endocrinol (Copenh) 112:238-246.
18. Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE: 1979. Male pseudohermaphroditism secondary to 17β-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J Clin Endocrinol Metab 49:391-395.
19. Labrie Y, Durocher F, Lachance Y, et al.: 1995. The human type II 17β-hydroxysteroid dehydrogenase gene encodes two alternatively spliced mRNA species. DNA Cell Biol 14:849-861.
20. Lanes R, Brown TR, de Bustos EG, et al.: 1983. Sibship with 17-ketoreductase (17-KSR) deficiency and hypothyroidism: lack of linkage of histocompatibility leukocyte antigen and 17-KSR loci. J Clin Endocrinol Metab 57: 190-196.
21. Leenders F, Husen B, Thole HH, Jungblut PW: 1994. The sequence of porcine 80 kDa 17β-estradiol dehydrogenase reveals similarities to the short chain dehydrogenase family, to actin binding motifs, and to sterol carrier protein 2. Mol Cell Endocrinol 104:127-131.
22. Levine LS, Lieber E, Pang S, New MI: 1980. Male pseudohermaphroditism due to 17-ketosteroid reductase deficiency diagnosed in the newborn period. Pediatr Res 14:480.
23. Longo FJ, Coleman SA, Givens JR: 1975. Ultrastructural analysis of the testes in male pseudohermaphroditism due to deficiency of 17-ketosteroid reductase. Am J Clin Pathol 64:145-154.
24. Luu-The V, Labrie C, Zhao HF, et al.: 1989. Purification, cloning, complementary DNA structure, and predicted amino acid sequence of human estradiol 17β-dehydrogenase. Ann NY Acad Sci 595:40-52.
25. Pang S, Softness B, Sweeny WJ, New MI: 1987. Hirsutism, polycystic ovarian disease, and ovarian 17-ketoreductase deficiency. N Engl J Med 316:1295-1301.
26. Peltoketo H, Isomaa V, Maentausta O, Vihko R: 1988. Complete amino acid sequence of human placental 17β-hydroxysteroid dehydrogenase deduced from cDNA. FEBS Lett 239: 73-77.
27. Peterson RE, Imperato-McGinley J: 1984. Male pseudohermaphroditism due to inherited deficiencies of testosterone biosynthesis. In Serio M, ed. Sexual Differentiation: Basic and Clinical Aspects. New York, Raven, pp. 301-319.
28. Pittaway DE, Andersen RN, Givens JR: 1976. Deficient 17β-oxidoreductase activity in testes from a male pseudohermaphrodite. J Clin Endocrinol Metab 43:457-461.
29. Rogers DG, Chasalow FI, Blethen SL: 1985. Partial deficiency in 17-ketosteroid reductase presenting as gynecomastia. Steroids 45:195-200.
30. Rosier A, Belanger A, Labrie F: 1992. Mechanisms of androgen production in male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 75:773-778.
31. Saez JM, de Peretti E, Morera AM, David M, Bertrand J: 1971. Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketoreductase defect. J Clin Endocrinol Metab 32:604-610.
32. Saez JM, Morera AM, de Peretti E, Bertrand J: 1972. Further in vitro studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketoreductase defect (compared to a case of testicular feminization). J Clin Endocrinol Metab 34:598-600.
33. Stanczyk FZ, Goebelsmann U, Nakamura RM: 1978. Further in vitro steroid metabolic studies of testicular 17β-reductase deficiency. J Steroid Biochem 9:153-157.
34. Toscano V, Balducci R, Bianchi P, Mangiantini A, Sciarra F: 1990. Ovarian 17-ketoreductase deficiency as a possible cause of polycystic ovarian disease. J Clin Endocrinol Metab 71: 288-292.
35. Ulloa-Aguirre A, Bassol S, Poo J, et al.: 1985. Endocrine and biochemical studies in a 46,XY phenotypically male infant with 17-ketosteroid reductase deficiency. J Clin Endocrinol Metab 60:639-640.
36. Virdis R, Saenger P: 1984. 17β-Hydroxysteroid dehydrogenase deficiency. In Adrenal Disease in Childhood: Pediatric Adolescent Endocrinology. Basel, Karger, 13:110-125.
37. Wilson SC, Oakey RE, Scott JS: 1988. Steroid metabolism in testes of patients with incomplete masculinization due to androgen insensitivity or 17β-hydroxysteroid dehydrogenase deficiency and normally differentiated males. J Steroid Biochem 29:649-655.
38. Wu, L, Einstein M, Geissler WM, Chan HK, Elliston KO, Andersson S: 1993. Expression, cloning and characterization of human 17β-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20α-hydroxysteroid dehydrogenase activity. J Biol Chem 268:12,964-12,969.
39. Zhang Y, Dufort I, Soucy, P, Labrie F, Luu-The V: 1995. Cloning and expression of human type V 17β-hydroxysteroid dehydrogenase [abst P3-614]. Proceedings of the 77th Annual Meeting of The Endocrine Society, Washington, DC. Bethesda, MD, The Endocrine Society, p 622.