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

  • Publication Type: Article / Article
  • Volume: 8 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.4274/jcrpe.2495
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.218-223
  • Keywords: 46,XY disorders of sex development, 5-alpha-reductase, testosterone, mutation, polymorphism, 5-ALPHA-REDUCTASE, GENE, TYPE-2, RISK, DEFECT
  • Bursa Uludag University Affiliated: Yes

Abstract

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.