hrp0084p3-781 | DSD | ESPE2015

Aromatase Deficiency due to Novel CYP19A1 Mutation in an Egyptian Patient with Ambiguous Genitalia

Mazen Inas , Mclreavey Ken , Hamid Mohamed Abdel

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.Objective and hypotheses: Report of a case with CYP19A1 mutation.Method: Here we report a patient who was presenting at the age of 20 years old ...

hrp0084p3-800 | DSD | ESPE2015

A Novel Mutation of the AMH in an Egyptian Male with Persistent Mullerian Duct Syndrome

Mazen Inas , Gammal Mona El , Hamid Mohamed Abdel

Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.Case report: Here, we report a novel mutation o...