Department of Pediatrics, SUNY Downstate Medical Center, Brooklyn, NY, USA.
MGH Weight Center, Massachusetts General Hospital and Harvard Medical School, 50 Staniford Street, Suite 430, Boston, MA 02114, USA; Rhythm Pharmaceuticals, 222 Berkeley Street, 12th Floor, Boston, MA 02116, USA.
Gastroenterol Clin North Am. 2023 Jun;52(2):323-332. doi: 10.1016/j.gtc.2023.03.005. Epub 2023 Apr 7.
Genetic forms of obesity contribute to ∼7% of severe obesity in children and adolescents. The exact global prevalence of monogenic and syndromic forms of obesity is not well established, most likely due to missed or delayed diagnosis. The challenge in determining the prevalence can be attributed to the lack of consensus on identifying and evaluating symptoms of genetic defects in a timely manner and hence a vastly undertested patient population. Further large-scale and long-term studies are needed to advance the understanding of this unique phenotype of obesity and effective treatment options."
遗传性肥胖占儿童和青少年重度肥胖的比例约为 7%。由于漏诊或诊断延迟，确切的单基因和综合征性肥胖的全球患病率尚未确定。确定患病率的挑战归因于缺乏及时识别和评估遗传缺陷症状的共识，因此有大量未经测试的患者人群。需要进一步开展大规模和长期研究，以加深对肥胖这一独特表型的认识并探索有效的治疗选择。
