ESPE Abstracts (2019) 92 P3-106

Phenotypic and Genotypic Properties of Children with Suspicion of Monogenic Obesity

İlkay Ayranci1, Gönül Çatli2, Berna Eroğlu Filibeli1, Elif Yiğit Gülşahin3, Berk Özyilmaz4, Hayrullah Manyas1, Bumin Nuri Dündar2


1Health Sciences University İzmir Tepecik Training and Research Hospital, Pediatric Endocrinology Clinic, İzmir, Turkey. 2Izmir Kâtip Çelebi University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey. 3Health Sciences University İzmir Tepecik Training and Research Hospital, Department of Pediatrics, İzmir, Turkey. 4İzmir, Health Sciences University İzmir Tepecik Training and Research Hospital, Genetic Diseases Diagnostic Center, İzmir, Turkey


Results: Total of 47 obese patients (20 females, 39 pubertals, mean age of 14.3 years).±3.2 years) were included in the study. Severe obesity present in 85% of patients, early-onset obesity in 51%, consanguinity among parents in 17%, and at least one parent with obesity in 63.8% were present. 55.3% of the patients had a family history of diabetes, 63% had acanthosis nigricans and 77% had striae. Anthropometric and laboratory characteristics of cases are summarized in Table 1 In the study, five patient with impaired fasting glucose, five patients with impaired glucose tolerance (one case with MC4R), one with diabetes, 46.8% with high TG, 27.7% with high total cholesterol, 17% with high LDL-K, 14.9% with low HDL-K were determined. Hypertension in 44.7% of the cases and prehypertension in 27.7% of them was observed. Three cases in the study were pathogenic variants in MC4R and in one case heterozygous variant was observed in LEPR which is not considered as pathogen variant. Frequency of sequence variant was 6.3% in the MC4R gene, and frequency of the sequence variant in the LEPR gene was 2.1%. Clinical and demographic characteristics of cases with sequence variants is summarized in Table 2.

Conclusion: In this study, a sequence variant (n=4) was determined in 8.5% of children examined for suspicion of monogenic obesity. In all cases with sequence variant, obesity developed in the first year of life. Monogenic obesity should be investigated in presence of severe obesity in the first year of life, consanguinity and obesity in parents.

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