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Annals of Saudi medicine · May 2014
Case ReportsTry235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.
- Mesut Parlak, Erdem Durmaz, Semin Gursoy, Iffet Bircan, and Sema Akcurin.
- Mesut Parlak, Department of Pediatric Endocrinology,, Antalya Education and Research Hospital,, Antalya, 07050, Turkey T: +90 2422494400, F: +90 2422494462, drmparlak@hotmail.com.
- Ann Saudi Med. 2014 May 1; 34 (3): 254-6.
AbstractSteroid 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.
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