Diagnosis of 5α-reductase deficiency in a teenage Turkish girl

U. Walden, R. Rauch, O. Hiort, G. H.G. Sinnecker, H. G. Dorr*

*Corresponding author for this work
5 Citations (Scopus)


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 languageEnglish
JournalJournal of Pediatric and Adolescent Gynecology
Issue number1
Pages (from-to)39-42
Number of pages4
Publication statusPublished - 1998

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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