Mila S. Welling, Mostafa Mohseni, Renate E. H. Meeusen, Cornelis J. de Groot, Mariëtte R. Boon, Lotte Kleinendorst, Jenny A. Visser, Mieke M. van Haelst, Erica L. T. van den Akker, Elisabeth F. C. van Rossum
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Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>We compared clinical features, including age of onset of obesity and appetite, between adults with non-syndromic monogenic obesity (MO), adults with syndromic obesity (SO), and adults with common obesity (CO) as control patients.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>A total of 79 adults with genetic obesity (32 with MO, 47 with SO) were compared with 186 control patients with CO. Median BMI was similar among the groups: 41.2, 39.5, and 38.7 kg/m<sup>2</sup> for patients with MO, SO, and CO, respectively. Median age of onset of obesity was 3 (IQR: 1–6) years in patients with MO, 9 (IQR: 4–13) years in patients with SO, and 21 (IQR: 13–33) years in patients with CO (<i>p</i> < 0.001). Patients with genetic obesity more often reported increased appetite: 65.6%, 68.1%, and 33.9% in patients with MO, SO, and CO, respectively (<i>p</i> < 0.001). Intellectual deficit and autism spectrum disorder were more prevalent in patients with SO (53.2% and 21.3%) compared with those with MO (3.1% and 6.3%) and CO (both 0.0%). The ES recommendations were fulfilled in 56.3%, 29.8%, and 2.7% of patients with MO, SO, and CO, respectively (<i>p</i> < 0.001).</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>We found distinct phenotypes in adult genetic obesity. Additionally, we demonstrated low sensitivity for detecting genetic obesity in adults using pediatric ES recommendations, necessitating specific genetic testing recommendations in adult obesity care.</p>\n </section>\n </div>","PeriodicalId":215,"journal":{"name":"Obesity","volume":"32 7","pages":"1257-1267"},"PeriodicalIF":4.2000,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/oby.24047","citationCount":"0","resultStr":"{\"title\":\"Clinical phenotypes of adults with monogenic and syndromic genetic obesity\",\"authors\":\"Mila S. Welling, Mostafa Mohseni, Renate E. H. Meeusen, Cornelis J. de Groot, Mariëtte R. Boon, Lotte Kleinendorst, Jenny A. Visser, Mieke M. van Haelst, Erica L. T. van den Akker, Elisabeth F. 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引用次数: 0
摘要
目的:考虑到成人遗传性肥胖诊断证据有限,我们对成人遗传性肥胖患者的表型进行了评估。此外,我们还评估了内分泌学会(ES)关于儿科肥胖症基因检测建议的适用性:我们比较了非综合征单基因肥胖症(MO)成人、综合征肥胖症(SO)成人和作为对照的普通肥胖症(CO)成人的临床特征,包括肥胖发病年龄和食欲:共有 79 名成人遗传性肥胖症患者(32 名 MO 患者,47 名 SO 患者)与 186 名普通肥胖症对照组患者进行了比较。各组患者的体重指数中位数相似:MO、SO 和 CO 患者的体重指数中位数分别为 41.2、39.5 和 38.7 kg/m2。MO患者的肥胖发病年龄中位数为3岁(IQR:1-6岁),SO患者为9岁(IQR:4-13岁),CO患者为21岁(IQR:13-33岁):我们发现成人遗传性肥胖有不同的表型。此外,我们还发现,使用儿科 ES 建议检测成人遗传性肥胖的灵敏度较低,因此有必要在成人肥胖症护理中提供特定的基因检测建议。
Clinical phenotypes of adults with monogenic and syndromic genetic obesity
Objective
Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes of adults with genetic obesity. Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity.
Methods
We compared clinical features, including age of onset of obesity and appetite, between adults with non-syndromic monogenic obesity (MO), adults with syndromic obesity (SO), and adults with common obesity (CO) as control patients.
Results
A total of 79 adults with genetic obesity (32 with MO, 47 with SO) were compared with 186 control patients with CO. Median BMI was similar among the groups: 41.2, 39.5, and 38.7 kg/m2 for patients with MO, SO, and CO, respectively. Median age of onset of obesity was 3 (IQR: 1–6) years in patients with MO, 9 (IQR: 4–13) years in patients with SO, and 21 (IQR: 13–33) years in patients with CO (p < 0.001). Patients with genetic obesity more often reported increased appetite: 65.6%, 68.1%, and 33.9% in patients with MO, SO, and CO, respectively (p < 0.001). Intellectual deficit and autism spectrum disorder were more prevalent in patients with SO (53.2% and 21.3%) compared with those with MO (3.1% and 6.3%) and CO (both 0.0%). The ES recommendations were fulfilled in 56.3%, 29.8%, and 2.7% of patients with MO, SO, and CO, respectively (p < 0.001).
Conclusions
We found distinct phenotypes in adult genetic obesity. Additionally, we demonstrated low sensitivity for detecting genetic obesity in adults using pediatric ES recommendations, necessitating specific genetic testing recommendations in adult obesity care.
期刊介绍:
Obesity is the official journal of The Obesity Society and is the premier source of information for increasing knowledge, fostering translational research from basic to population science, and promoting better treatment for people with obesity. Obesity publishes important peer-reviewed research and cutting-edge reviews, commentaries, and public health and medical developments.