title: Diagnosis of 5alpha-reductase deficiency in a teenage Turkish girl.
abstract: Deficiency of 5alpha-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 5alpha-reductase deficiency with a complete molecular genetic analysis have been published. We report on a Turkish patient clinically classified with steroid 5alpha-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 5alpha-reductase type 2 gene.
authors.affiliation: University Children Hospitals, Erlangen, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Walden
authors.forename: R
authors.initials: R
authors.lastname: Rauch
authors.forename: O
authors.initials: O
authors.lastname: Hiort
authors.forename: G H
authors.initials: GH
authors.lastname: Sinnecker
authors.forename: H G
authors.initials: HG
authors.lastname: Dörr
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase