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...

hrp0086p2-p429 | Gonads & DSD P2 | ESPE2016

Novel AMH and AMHR-II Mutations in Two Egyptian Families with Persistent Mullerian Duct Syndrome

Mazen Inas , El Gammal Mona , El Aidy Aya , Abdel Hamid Mohamed

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...