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...