ESPE Abstracts

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...

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division ...

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...

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...

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...