ESPE Abstracts

Background: In this study we investigated the genetic aetiology of a series patients with DSD seen in Ukraine.Materials and Methods: The Ukraine Pediatric DSD Register has 95 children with DSD between the ages of 0-18 y.o. in 2018 (a prevalence of 1 in 80097). The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. All patients had...

Background: The term ‘disorder of sex development’ (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.Materials and methods: A retrospective analysis of the 75 medical cards of patients with DSD since 2000 up to 2017 year was done. The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. At the tim...

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...