hrp0086p2-p392 | Gonads & DSD P2 | ESPE2016

Identification of an AR Mutation in Klinefelter’s Syndrome during Evaluation for Penoscrotal Hypospadias

Acar Sezer , Tuhan Hale , Bora Elcin , Demir Korcan , Onay Huseyin , Ercal Derya , Bober Ece , Abaci Ayhan

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...