A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family

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dc.contributor.authorBahceci, M
dc.contributor.authorErsay, AR
dc.contributor.authorTuzcu, A
dc.contributor.authorHiort, O
dc.contributor.authorRichter-Unruh, A
dc.contributor.authorGokalp, D
dc.date.accessioned2024-04-24T16:18:34Z
dc.date.available2024-04-24T16:18:34Z
dc.date.issued2005
dc.departmentDicle Üniversitesien_US
dc.description.abstractObjectives. To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. Methods. Two female siblings of a family with 7 children were referred to the urology department because of bilateral inguinal masses. The patients had presented after birth with ambiguous genitalia, but no further diagnostic procedures had been performed, and they were raised as girls until the ages of 13 and 15 years. At this time, both had striking ambiguity of the genitalia, with a clitoris-like phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias, a rudimentary prostate, and inguinal testes. Karyotype was 46,XY. Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. Molecular genetic analysis was performed on deoxyribonucleic acid from peripheral blood leukocytes by single-stranded conformational polymorphism analysis and direct sequencing. Results. Analysis of the SRD5A2 gene revealed a new homozygous missense mutation in exon 2. At codon 123, we identified a GGA to AGA change resulting in a missense amino acid change from glycine to arginine (G123R). Both parents and the 2 healthy sisters and 3 brothers were all heterozygous at codon 123 for the same mutation. Conclusions. We report a novel homozygous missense mutation in exon 2 of the 5-alpha reductase type 2 gene that led to severe undervirilization in 2 siblings.en_US
dc.identifier.doi10.1016/j.urology.2005.02.021
dc.identifier.endpage410en_US
dc.identifier.issn0090-4295
dc.identifier.issue2en_US
dc.identifier.pmid16098368
dc.identifier.scopus2-s2.0-23744435368
dc.identifier.scopusqualityQ2
dc.identifier.startpage407en_US
dc.identifier.urihttps://doi.org/10.1016/j.urology.2005.02.021
dc.identifier.urihttps://hdl.handle.net/11468/16171
dc.identifier.volume66en_US
dc.identifier.wosWOS:000232157600037
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofUrology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject[No Keyword]en_US
dc.titleA novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish familyen_US
dc.titleA novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
dc.typeArticleen_US

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