hrp0092p3-230 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Novel Heterozygous Mutation in Wilms Tumor 1 Gene in Patient with Mixed Gonadal Dysgenesis

Hassan Heba , Essawi Mona , Mekkawy Mona , Kamel Alaa , Mazen Inas

Disorders of sex development (DSD) have defined as congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Wilms tumor 1(WT1) gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms tumor, nephropathy, gonadoblastoma and other defects e.g. cryptorchidism, hypospadias. Sex chromosome mosaicism is a major cause of DSD with a wide phenotypic variability. The p...

hrp0086p2-p416 | Gonads & DSD P2 | ESPE2016

Cytogenetic Variability and Phenotypic Findings in Patients with Ovotesticular Disorder of Sex development

Mekkawy Mona , Mazen Inas , kamel Alaa , Mohamed Amal , El Dessouky Nabil

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...