hrp0086p2-p417 | Gonads & DSD P2 | ESPE2016

Cytogenetic Study of Sex Chromosomal Abnormalities in Egyptian DSD Patients

Mazen Inas , Kamel Alaa , Mekkawi Mona , El aidy Aya

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

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...