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

J Pediatr Endocrinol Metab. 2012;25(5-6):543-5. doi: 10.1515/jpem-2011-0497.

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.

Publication types

  • Case Reports

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
  • Female
  • Genitalia, Female / pathology
  • Genitalia, Male / pathology
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Gonadal Dysgenesis, 46,XY / pathology*
  • Homozygote
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense / genetics*
  • Phenotype

Substances

  • Membrane Proteins
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
  • SRD5A2 protein, human

Supplementary concepts

  • 46, XY female