Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 223-230

  Sinnecker, Gernot H G ^a   Hiort, Olaf ^a   Dibbelt, Leif ^a   Albers, Norbert ^b   Dörr, Helmuth G ^c   Hauß, Hannelore ^d   Heinrich, Udo ^e   Hemminghaus, Michael ^f   Hoepffner, Wolfgang ^g   Holder, Martin ^h   Schnabel, Dirk ⁱ   Kruse, Klaus ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d Evangelisches Krankenhaus Oberhausen   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f RUHR UNIVERSITY BOCHUM   (Germany)

^g UNIVERSITY OF LEIPZIG   (Germany)

^h OLGAHOSPITAL   (Germany)

ⁱ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

5 reductase 2 deficiency; classification; dihydrotestosterone; male pseudohermaphroditism; phenotype; SRD5A2; testosterone

Indexed keywords

STEROID 5ALPHA REDUCTASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; HUMAN; HYPOSPADIAS; INFANT; MALE; MALE PSEUDOHERMAPHRODITISM; MICROPENIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DIHYDROTESTOSTERONE; FEMALE; HUMANS; HYPOSPADIAS; INFANT; MALE; PENIS; PHENOTYPE; POINT MUTATION; PSEUDOHERMAPHRODITISM; SEQUENCE DELETION; TESTOSTERONE; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 0029932413     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<223::AID-AJMG39>3.0.CO;2-O     Document Type: Article

References (22)

1. Andersson S, Russell DW (1990): Structural and biochemical properties of cloned and expressed human and rat steroid 5α-reductases. Proc Natl Acad Sci USA 87:3640-3644.
2. Andersson S, Berman DM, Jenkins EP, Russell DW (1991): Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism. Nature 354:159-161.
3. Boudon C, Lumbroso S, Lobaccaro JM, Szarras-Czapnik M, Romer TE, Garandeau P, Montoya P, Sultan C (1995a): Molecular study of the 5α-reductase type 2 gene in three European families with 5α-reductase deficiency. J Clin Endocrinol Metab 80:2149-2153.
4. Boudon C, Lobaccaro JM, Lumbroso S, Ögur G, Öcal G, Belon C, Sultan C (1995b): A new deletion of the 5 alpha-reductase type 2 gene in a turkish family with 5 alpha-reductase deficiency. Horm Res 44:4.
5. Burstein S, Grumbach MM, Kaplan SL (1979): Early determination of androgen-responsiveness is important in the management of microphallus. Lancet 2:983-986.
6. Carpenter TO, Imperato-McGinley J, Boulware SD, Weiss RM, Shackleton C, Griffin JE, Wilson JD (1990): Variable expression of 5α-reductase deficiency: Presentation with male phenotype in a child of Greek origin. J Clin Endocrinol Metab 71:318-322.
7. Forest MG, Mollard P, David M, Morel Y, Bertrand J (1990): Syndrome d'insensibilité incomplète aux androgènes. Arch Fr Pediatr 47:107-113.
8. Hiort O, Huang Q, Sinnecker GHG, Sadeghi-Nejad A, Kruse K, Wolfe HJ, Yandell DW (1993): Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: Application for diagnosis, genetic counseling, and therapy. J Clin Endocrinol Metab. 77:262-266.
9. Hiort O, Wodtke A, Struve D, Zöllner A, Sinnecker GHG (1994a): Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. Hum Molec Genet 3:1163-1166.
10. Hiort O, Klauber G, Cendron M, Sinnecker GHG, Keim L, Schwinger E, Wolfe HJ, Yandell DW (1994b): Molecular characterization of the androgen receptor gene in boys with hypospadias. Eur J Pediatr 153:317-321.
11. Hiort O, Willenbring H, Albers N, Hecker W, Dibbelt L, Engert J, Sinnecker GHG (1996): Molecular genetic analysis and hCG stimulation tests in the diagnosis of prepubertal patients with partial 5α-reductase deficiency. Eur J Pediatr, in press.
12. Imperato-McGinley J, Peterson RE, Gautier T, Sturla E (1979): Male pseudohermaphroditism secondary to 5α-reductase deficiency: A model for the role of androgens in both the development of the male phenotype and the evolution of a male gender identity. J Steroid Biochem 11:637-645.
13. Jenkins EP, Hsieh CL, Milatovich A, Normington K, Berman DM, Francke U, Russell DW (1991): Characterization and chromosomal mapping of a human steroid 5α-reductase gene and pseudogene and mapping of the mouse homologue. Genomics 11:1102-1112.
14. Labrie F, Sugimoto Y, Luu-The V, Simard J, Lachance Y, Bachvarov D, Leblanc G, Durocher F, Paquet N (1992): Structure of human type II 5α-reductase gene. Endocrinology 131:1571-1573.
15. Ng WK, Taylor NF, Hughes IA, Taylor J, Ransley PG, Grant DB (1990): 5α-reductase deficiency without hypospadias. Arch Dis Child 65:1166-1167.
16. Pang S, Levine LS, Chow D, Sagiani F, Saenger P, New MI (1990): Dihydrotestosterone and its relationship to testosterone in infancy and childhood. J Clin Endocrinol Metab 48:821-826.
17. Price P, Was JAH, Griffin JE, Leshin M, Savage MO, Large DM, Bullock DE, Anderson DC, Wilson JD, Besser GM (1984): High dose androgen therapy in male pseudohermaphroditism due to 5α-reductase deficiency and disorders of the androgen receptor. J Clin Invest 74:1496-1508.
18. Saez JM, Bertrand J (1968): Studies on testicular function in children: plasma concentrations of testosterone, dehydroepiandrosterone and its sulfate before and after stimulation with human chorionic go nadotropin. Steroids 12:749-761.
19. Sinnecker G, Köhler S (1989): Sex hormone-binding globulin response to the anabolic steroid stanozolol: evidence for its suitability as a biological androgen sensitivity test. J Clin Endocrinol Metab 68: 1195-200.
20. Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Franke U, Wilson JD, Russell DW (1992): Molecular genetics of steroid 5α-reductase 2 deficiency. J Clin Invest 90:799-309.
21. Walsh PC, Madden JD, Harrod MJ, Goldstein JL, MacDonald PC, Wilson JD (1974): Familial incomplete male pseudohermaphroditism, type 2: Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. N Engl J Med 291:944-949.
22. Wilson JD, Griffin JE, Russell DW (1993): Steroid 5α-reductase 2 deficiency. Endocrinol Rev 14:577-593.