Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Obesity (Silver Spring). 2024 Jul;32(7):1257-1267. doi: 10.1002/oby.24047. Epub 2024 May 28.
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.
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.
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 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).
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.
鉴于成人遗传性肥胖症诊断的证据有限，我们评估了遗传性肥胖症成人的表型。此外，我们评估了儿科学会（Endocrine Society，ES）关于儿科肥胖症基因检测建议在成人中的适用性。
我们比较了非综合征性单基因肥胖症（monogenic obesity，MO）、综合征性肥胖症（syndromic obesity，SO）和常见肥胖症（common obesity，CO）成人患者的临床特征，包括肥胖症发病年龄和食欲。
共有 79 名遗传性肥胖症成人（32 名 MO，47 名 SO）与 186 名 CO 对照组患者进行了比较。各组的 BMI 中位数相似：MO、SO 和 CO 患者的 BMI 中位数分别为 41.2、39.5 和 38.7kg/m。MO 患者肥胖症发病年龄的中位数为 3（IQR：1-6）岁，SO 患者为 9（IQR：4-13）岁，CO 患者为 21（IQR：13-33）岁（p<0.001）。有遗传性肥胖症的患者更常报告食欲增加：MO、SO 和 CO 患者分别为 65.6%、68.1%和 33.9%（p<0.001）。与 MO（3.1%和 6.3%）和 CO（均为 0.0%）患者相比，SO 患者的智力缺陷和自闭症谱系障碍更为常见（53.2%和 21.3%）。MO、SO 和 CO 患者中分别有 56.3%、29.8%和 2.7%符合 ES 建议（p<0.001）。
我们发现成人遗传性肥胖症有明显不同的表型。此外，我们发现使用儿科 ES 建议在成人中检测遗传性肥胖症的敏感性较低，因此在成人肥胖症护理中需要特定的基因检测建议。
