The earlier described mutation (c.307C> T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype


ŞİMŞEK E., Binay C., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism, vol.25, no.5-6, pp.543-545, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 5-6
  • Publication Date: 2012
  • Doi Number: 10.1515/jpem-2011-0497
  • Title of Journal : Journal of Pediatric Endocrinology and Metabolism
  • Page Numbers: pp.543-545
  • Keywords: 46,XY DSD, female phenotype, homozygous mutation, SRD5A2, REDUCTASE TYPE-2 GENE, STEROID 5-ALPHA-REDUCTASE-2 DEFICIENCY, TURKISH FAMILY, MALE PSEUDOHERMAPHRODITISM, LARGE PEDIGREE, HYPOSPADIAS, DELETION, PATIENT

Abstract

Deletions and mutations in the 5- α -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. © 2012 by Walter de Gruyter, Berlin, Boston.