Searchable abstracts of presentations at key conferences in endocrinology

ea0033p32 | (1) | BSPED2013

Diabetes mellitus related to Williams syndrome: first report of childhood onset

Lucaccioni Laura , Shaikh Guftar M , Craigie Ian , Giacomozzi Claudio

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...