hrp0082p3-d2-965 | Sex Development (1) | ESPE2014

Mosaicism Ratios of 45,X to 46,X IdicY Explained a Phenotype in a Case with Mixed Gonadal Dysgenesis

Hatano Megumi , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY may manifest complications characteristic of Turner’s syndrome. We here present a 10-year-old male with MGD who had coarctation of aorta. At birth, he was found to have hypospadias, bifid scrotum and cryptorchidism. Chromosomal analysis of lymphocytes revealed a karyotype of 46,X idic Y (23)/45,X (7). Left gonadectomy was performed in infancy and the removed gonad showed s...