ESPE Abstracts

Background: Childhood obesity has fast become one of the greatest challenges faced by public health. Recent NHS figures (2018) state over one fifth of all year 6 students in the UK were living with obesity. This has consequences for health-care resources, but more importantly affects young people’s physical and mental wellbeing. Liraglutide (Saxenda), a glucagon-like peptide-1 agonist, has been proven to reduce blood glucose, markers of adiposity and sup...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

Background: Hypospadias is a common characteristic of Disorders of Sex Development (DSD). At the present time a molecular diagnosis is not reached in over 50% of cases. The DDD Study represents a useful resource of large molecular and phenotypic datasets obtained from individuals with an undiagnosed developmental abnormality including DSD.Objective: To review associated features and identify likely pathogenic variants in previously undiagnosed DDD partic...