ESPE Abstracts

Next generation sequencing technologies are dramatically changing biomedical research and patient diagnosis. The reducing costs of sequencing as well as robust experimental and computational protocols mean that the technology is readily available to most research and diagnostic laboratories. However, the identification of disease-causing mutations in individuals with disorders of sex development (DSD) is challenging for several reasons. These conditions are very difficult to s...

The WT1 gene has a crucial role in the genesis of the bipotential genital ridge and subsequently in the specification of the Sertoli cells of testis. Mutations involving the WT1 gene are associated with a wide range of phenotypes impacting testis-determination and development including Denys-Drash syndrome, Frasier syndrome and Meacham syndrome. Here, we describe two sibs with DSD carrying a de novo mutation in the WT1 gene. A girl was born with Prader IV intersex genitals. Cy...

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...

Background: 49,XY gonadal dysgenesis (GD) is a very rare disorder of testes development with an incidence of 1:50–100 000. MAP3K1 is a MAPK that mainly regulates the MAPK pathways. High Map3k1 expression was found in female and male mice gonads at 13.5 dpc. In 2010, MAP3K1 mutations were identified in two families with complete and partial XY GD and in two unrelated sporadic cases with complete XY GD (Pearlman 2010 AJMG). Recently, four additional mutations (four out of 4...

Differences of sex development (DSD) are congenital conditions with discordance between chromosomal, gonadal and/or anatomic sex. DSD can be syndromic or non-syndromic based on the presence or absence of somatic anomalies, respectively. Variants in several genes have been identified in association with errors of testis determination and male genital differentiation. However, despite technological advances, a genetic diagnosis is not achieved in nearly 50% of individuals presen...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...