hrp0095p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Cerebello- Oculo- Fascio-Genital Syndrome and Scrotal Agenesis with MAB21L1 Mutation; Case Report

Nalçacı Sinem , Döğer Esra , Kaya Cem , Mahmut Orhun Çamurdan , Bideci Aysun

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...