hrp0089p3-p027 | Adrenals and HPA Axis P3 | ESPE2018

Adrenocortical Tumours in Children – A Case Series

Hua Chan Si , Farhad Vasanwala Rashida

Background: Paediatric adrenocortical tumours (ACT) are rare and typically present with virilising symptoms and signs which can be similar to other virilising conditions such as congenital adrenal hyperplasia.Case description: We describe three cases of ACT diagnosed and managed at our institution over the past 10 years. The three girls presented with symptoms of virilisation. The mean interval between first symptoms and diagnosis was 19.6 months (rangin...

hrp0098p2-61 | Diabetes and Insulin | ESPE2024

A Novel Disease-causing Variant of INS-MODY with a Unique Phenotype.

Chua Cherie , Si Hua Tan Clara , Chi Lim Su , Farhad Vasanwala Rashida

Background: Maturity-onset diabetes of the young (MODY) represents 1-5% of all patients with diabetes mellitus (DM) and numerous genes have been found to be associated with it. While mutations of the insulin gene (INS) are better known to cause permanent neonatal diabetes mellitus, several rare disease-causing variants have also been identified in patients with MODY. Patients with INS-MODY demonstrate variable clinical phenotypes – ranging from milder fo...