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hrp0095p1-79 | Fat, Metabolism and Obesity | ESPE2022

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

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...

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hrp0098p1-101 | Thyroid 1 | ESPE2024

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline

Kurnaz Erdal , Turkyilmaz Ayberk , Yaralı Oguzhan , Sena Dönmez Ayşe , Çayır Atilla

Background: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases.Aim: This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variantsMethod: The study included cases whose genetic analysis was performed in ac...

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ESPE Abstracts

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline

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