title: A novel mutation of 5alpha-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment.
abstract: Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5alpha-reductase deficiency. Here, we report a novel homozygous point mutation of SRD5A2 gene at codon 65 in exon 1, due to a proline for alanine substitution in a Turkish family whose proband has severe undervirilization. This mutation has not been reported up to date in association with 5alpha-reductase deficiency in various ethnic groups. We discussed some questions about gender assignment in addition to the molecular and clinical characteristics of the disease.
authors.affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, Ankara University School of Medicine, Ulusoy 312 City No: 16 B46, Cayyolu, 06830 Ankara, Turkey. senaysavas@yahoo.com
authors.forename: Senay
authors.initials: S
authors.lastname: Savas Erdeve
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoglu
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Siklar
authors.forename: Bulent
authors.initials: B
authors.lastname: Hacihamdioglu
authors.forename: Kadir
authors.initials: K
authors.lastname: Sipahi
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
authors.forename: Gonul
authors.initials: G
authors.lastname: Ocal
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D000409:Alanine; D002648:Child; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005783:Gender Identity; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D011392:Proline; D012727:Sex Characteristics; D014421:Turkey
chemical_list: D003062:Codon; D011392:Proline; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; D000409:Alanine