hrp0084s3.1 | Disorders of sex development: An update | ESPE2015

Novel Genes Identified in Male and Female Sex Development

McElreavey Kenneth

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...

hrp0089p1-p222 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

A De Novo Missense Mutation in the 4th Zinc Finger of the WT1 Gene Causes 46,XY and 46,XX DSD in Two Sibs

Bertalan Rita , Gellen Balazs , Eozenou Caroline , McElreavey Kenneth , Bashamboo Anu

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...

hrp0092p2-272 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Genetic Testing of DSD Patients in Ukraine

Shcherbak Yuliya , Zelinska Nataliya , Schevchenko Iryna , Globa Evgeniya , Bashamboo Anu , McElreavey Kenneth

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...

hrp0089p3-p335 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

DSD in Ukraine: Our Experience

Shcherbak Yuliya , Zelinska Nataliya , Globa Evgeniya , Schevchenko Iryna , Bashamboo Anu , McElreavey Kenneth

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...

hrp0084p2-308 | DSD | ESPE2015

MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis

Kohler Birgit , Gehrmann Nicole , Gruters-Kieslich Annette , Bignon-Topalovic Joelle , McElreavey Kenneth , Bashamboo Anu

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...

hrp0097lb18 | Late Breaking | ESPE2023

A Novel Variant of NR2F2 Associated with Non-syndromic 46,XY DSD

Wankanit Somboon , Zidoune Housna , Bignon-Topalovic Joëlle , Schlick Laurène , Houzelstein Denis , Fusee Leila , McElreavey Kenneth , Bashamboo Anu , Elzaiat Maëva

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...

hrp0095p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Predictors of surgical outcomes in boys with hypospadias

Scougall Kathryn , Bryce Jillian , Baronio Federico , L Boal Rachel , Castera Roberto , Castro Sebastián , Cheetham Tim , Correa Costa Eduardo , Darendeliler Feyza , Davies Justin , Dirlewanger Mirjam , Gazdagh Gabriella , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Herrmann Gloria , Holterhus Paul-Martin , Karagözlü Akgül Ahsen , Markosyan Renata , Nordenstrom Anna , McElreavey Kenneth , Lopes Miranda Marcio , Poyrazoglu Sukran , Russo Gianni , Schwitzgebel Valerie , Steigert Michael , Faisal Ahmed S. , K Lucas-Herald Angela

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...