{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:36:21Z","timestamp":1791855381604,"version":"4.3.4"},"reference-count":36,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Genetic obesity is rare and quite challenging for pediatricians in terms of early identification. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and is found to play an important role in leptin and insulin signaling and therefore in the pathogenesis of obesity and diabetes. Microdeletions in chromosome 16p11.2, encompassing the &lt;i&gt;SH2B1&lt;\/i&gt; gene, are known to be associated with obesity, insulin resistance, hyperphagia, and developmental delay. The aim of our study is to report on a case series of young individuals with 16p11.2 microdeletions, including the &lt;i&gt;SH2B1&lt;\/i&gt; gene, and provide detailed information on body mass index (BMI) development and obesity-associated comorbidities. In this way, we want to raise awareness of this syndromic form of obesity as a differential diagnosis of genetic obesity. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We describe the phenotype of 7 children (3 male; age range: 2.8\u201318.0 years) with 16p11.2 microdeletions, encompassing the &lt;i&gt;SH2B1&lt;\/i&gt; gene, and present their BMI trajectories from birth onward. Screening for obesity-associated comorbidities was performed at the time of genetic diagnosis. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; All children presented with severe, early-onset obesity already at the age of 5 years combined with variable developmental delay. Five patients presented with elevated fasting insulin levels, 1 patient developed diabetes mellitus type 2, 4 patients had dyslipidemia, and 4 developed nonalcoholic fatty-liver disease. &lt;b&gt;&lt;i&gt;Discussion\/Conclusion:&lt;\/i&gt;&lt;\/b&gt; Chromosomal microdeletions in 16p11.2, including the &lt;i&gt;SH2B1&lt;\/i&gt; gene, in children are associated with severe, early-onset obesity and comorbidities associated with insulin resistance. Early genetic testing in suspicious patients and early screening for comorbidities are recommended.<\/jats:p>","DOI":"10.1159\/000520402","type":"journal-article","created":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T17:01:40Z","timestamp":1634922100000},"page":"137-148","source":"Crossref","is-referenced-by-count":12,"title":["Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on &lt;b&gt;&lt;i&gt;SH2B1&lt;\/i&gt;&lt;\/b&gt; Deletion"],"prefix":"10.1159","volume":"95","author":[{"given":"Eleni 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