hrp0095p1-79 | Fat, Metabolism and Obesity | ESPE2022
Cayir Atilla
, Turkyilmaz Ayberk
, Rabenstein Hannah
, Guven Fadime
, Sumeyra Karagoz Yuksel
, Wabitsch Martin
, Demirbilek Huseyin
Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...