Abstract
Deficiency of 5α-reductase type 2 activity causes deficient masculinization of 46,XY individuals caused by a lack of dihydrotestosterone. At puberty, virilization is often observed. A precise diagnosis with correct gender assignment at an early age is very important. Recently, the molecular basis of the enzyme defect was discovered; however, only a few cases of 5α-reductase deficiency with a complete molecular genetic analysis have been published. We report on a Turkish patient clinically classified with steroid 5α-reductase deficiency (SRD) type 3b (karyotype 46,XY) who was raised as a girl and presented to us at the age of 14 years because the male phenotype had become predominant at puberty. Endocrinological investigations revealed an elevated serum testosterone/dihydrotestosterone ratio (17.3, normal: < 16). PCR-SSCP analyses detected a deletion of methionine on exon 3 of the 5α-reductase type 2 gene.
| Original language | English |
|---|---|
| Journal | Journal of Pediatric and Adolescent Gynecology |
| Volume | 11 |
| Issue number | 1 |
| Pages (from-to) | 39-42 |
| Number of pages | 4 |
| ISSN | 1083-3188 |
| DOIs | |
| Publication status | Published - 1998 |
Funding
5α-Reductase deficiency is a rare autosomal recessive inherited cause of male pseudohermaphroditism.1 Genotypic male individuals are characterized by female or ambiguous external genitalia with microphallus, normally differentiated testes, and male internal ducts.2 Perineoscrotal hypospadias, a blind-ending vaginal pouch, urogenital sinus, and a small prostate are common findings. At puberty, the individuals undergo partial viriliza- Dedicated to Dr. H.U. Tietze on the occasion of his 60th birthday. Supported by Deutsche Forschungsgemeinschaft (Hi497/4-1) to a.H. for moleculeargenetic studies. Presented in partat the 10th International Congress of Endocrinology, SanFrancisco, California, 1996. Address reprint requests to: Helmuth G. DOff, MD, Division of Pediatric Endocrinology, University Hospital forChildren andAdolescents, Loschgestr. 15, D-91054 Erlangen, Germany.
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
