Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

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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)

• 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
• 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.