title: Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.
abstract: Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal recessive disorder that results in decreased conversion of testosterone to dihydrotestosterone with various de.gree of incomplete virilization in affected 46, XY infants. No clear genotype-phenotype relationship has been reported till date; moreover, the same mutation can result in considerable heterogeneity in clinical manifestations. Of 6 documented cases with Try235Phe homozygous mutation of the SRD5A2 gene, 3 patients had predominantly female external genitalia whereas the other 3 had predominantly male phenotype. We report Try235Phe homozygous mutation of the SRD5A2 gene in a Turkish patient who was initially assigned as a girl because of the predominantly female appearance of the external genitalia.
authors.affiliation: Mesut Parlak, Department of Pediatric Endocrinology,, Antalya Education and Research Hospital,, Antalya, 07050, Turkey T: +90 2422494400, F: +90 2422494462, drmparlak@hotmail.com.
authors.forename: Mesut
authors.initials: M
authors.lastname: Parlak
authors.forename: Erdem
authors.initials: E
authors.lastname: Durmaz
authors.forename: Semin
authors.initials: S
authors.lastname: Gursoy
authors.forename: Iffet
authors.initials: I
authors.lastname: Bircan
authors.forename: Sema
authors.initials: S
authors.lastname: Akcurin
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013739:Testosterone / Q000378:metabolism*; D014421:Turkey
chemical_list: D008565:Membrane Proteins; D013739:Testosterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human