hrp0098p2-335 | Late Breaking | ESPE2024

Exploring the clinical outcomes and experiences for young people (12-17) taking Liraglutide for weight loss

Schaefer Natasha , Jackson Ojal

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...

hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic findings in short Turkish children born to consanguineous parents

Joustra Sjoerd , Isik Emregul , M. Wit Jan , Catli Gonul , Anik Ahmet , Haliloglu Belma , Kandemir Nurgun , Ozsu Elif , Hendriks Yvonne , de Bruin Christiaan , Kant Sarina , Campos-Barros Angel , Challis Rachel , Parry David , Harley Margaret , Jackson Andrew , Losekoot Monique , van Duyvenvoorde Hermine

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 ...

hrp0089fc8.3 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Exomic Sequencing Uncovers Novel Genetic Associations for Deciphering Developmental Disorders (DDD) Study Participants with Hypospadias, Cardiovascular and Neurodevelopmental Abnormalities

Gazdagh Gabriella , McGowan Ruth , Ahmed Faisal , DDD Study Faisal , Tobias Edward

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...