hrp0092p2-274 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

MAMLD 1 Gene Mutation and 46 XY Sex Development Disorder: A Case Report

Bousyf Bouchra , Ezzerrouqi Amine , Lazreg Youssef , Latrech Hanane

Introduction: 46 XY sex development disorders are a group of rare congenital conditions in which chromosomal, gonadal or anatomic sex is atypical. Less than 20% of cases have a precise genetic diagnosis.We report here the case of a patient suffering from a 46 XY sexual development disorder secondary to the MAMLD 1 gene mutation.Observation: The patient is a nine month infant who was admitted fo...