Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

EREN E., EDGÜNLÜ T., Asut E., Celik S. K.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.8, no.2, pp.218-223, 2016 (SCI-Expanded) identifier identifier identifier


Objective: Deficiency of steroid 5-alpha reductase type 2 (5 alpha RD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of testosterone into dihydrotestosterone, leads to disorders of sex development. This study presents the clinical and genetic results of patients with 5 alpha RD2 deficiency.