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, cilt.8, sa.2, ss.218-223, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/jcrpe.2495
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.218-223
  • Anahtar Kelimeler: 46,XY disorders of sex development, 5-alpha-reductase, testosterone, mutation, polymorphism, 5-ALPHA-REDUCTASE, GENE, TYPE-2, RISK, DEFECT
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.