Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1181 | Male Reproduction | ECE2017

CHARGE syndrome – late diagnosis in adulthood

Costa Maria Manuel , Esteves Cesar , Castedo JoseLuis , Pignatelli Duarte , Carvalho Davide

Introduction: CHARGE syndrome is a rare autossomal dominant genetic disorder with an estimated birth incidence of 1:10000. It affects multiple organ systems and can have a variable phenotypic expression.Case report: 34-years-old man, referred to Endocrinology in the context of bilateral gynecomastia. He had an acute corneal hydrops which was treated by ophthalmology. Physical examination showed short stature (149 cm), obesity (BMI 31.5 kg/m2),...