Endocrine Abstracts

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 for abnormalities of the external genital organs. The physical...