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