hrp0082p2-d2-580 | Sex Development (1) | ESPE2014

The V89L Polymorphism in the SRD5A2 Gene in Cases with Undescended Testis

Yesilada Elif , Akinci Aysehan , Gulbay Gonca , Yuksel Sengul , Savaci Serap

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...