Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep1131 | Reproductive and Developmental Endocrinology | ECE2024

Bardet-Biedl syndrome with hypokalaemia paralysis: case report

El Haddad Hemmet , Abou Farha Manal , Sameh Ihab , Fayed Ahmed , Ezzat Asma , Salam Randa , Abdalla Alaa , Ihab Sara , Essam Haader , Khaled Rodina

Introduction: Bardet–Biedl syndrome is a rare autosomal recessive disorder with a wide range of clinical features. The primary clinical features include rod-cone dystrophy, postaxial polydactyly, central obesity, cognitive impairment, male hypogonadism and renal dysfunction.Case report: 22 Year old male, mentaly retarded with Bardet Biedle syndrome presented to our ER with vomiting and generalized weakness for 1 week. There was no history of fever, ...