title: The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
abstract: Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46,XY DSD patient with a homozygous c.307C>T (p.R103X) mutation in the SRD5A2 gene. The case presented with a normal female external genital phenotype.
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. enversimsek06@hotmail.com
authors.forename: Enver
authors.initials: E
authors.lastname: Simsek
authors.forename: Cigdem
authors.initials: C
authors.lastname: Binay
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D005260:Female; D005836:Genitalia, Female / Q000473:pathology; D005837:Genitalia, Male / Q000473:pathology; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human