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ea0035p821 | Paediatric endocrinology | ECE2014

Molecular findings of three different male under virilization cases with 47,XXY karyotype

Akcay Teoman , Ulucan Korkut

Introduction: Male under virilization is a rare condition mostly due to the mutations of hormones that effect male reproductive tract. One of the most important gene mutations that effect that pathway is the androgen receptor gene (AR) mutations which is located at Xq12 in individuals with 46, XX. In this report, we present the AR and SRD5A2 gene analysis of three different under-virilized patients with 47, XXY karyotype.Methods: Chromo...