Study of 5 Alpha Reductase Enzyme Gene Mutations in a Group of Patients with 46XY Disorders of Sex Developmen

Abstract

The 5-alpha reductase enzyme is responsible for converting testosterone to its more active form, dihydrotestosterone (DHT). DHT plays an important role in the development of external male genetlia; its deficiency is inherited in an autosomal recessive pattern and it is caused by mutations in the SRD5A2 gene which encodes for it. The patient will have either normally looking female external genitalia to completely ambiguous genitalia the EMS provides an objective aggregate score of the extent of masculinization of the external genital. A total score equal or less than 7 is considerd to be under masculinization or ambiguity. In our study 25 patients with 46XY DSD were recruited from pediatric endocrinology clinic. History and clinical and laboratory evaluation . Ten novel mutations of SRD5A2 gene were demonstrated a among twelve patients with 5 alpha reductase deficiency . Mean EMS among those patients was low denoting gender ambiguity .