Politei Juan M, Patrono Andrea
Neurology Department, SPINE Foundation, Buenos Aires, Argentina.
Nutrition Department, Trinity Clinic, Buenos Aires, Argentina.
Obes Facts. 2024;17(6):646-651. doi: 10.1159/000541267. Epub 2024 Sep 16.
Monogenic obesity is caused by a unique genetic dysfunction, often appears in childhood, and can be accompanied by neuroendocrine, skeletal, developmental, and behavioral disorders, among other manifestations. Some variants in the SH2B1 gene have been suggested as strong candidates for the development of autosomal dominant obesity.
We describe here the clinical response after 1 year of setmelanotide treatment in a 22-year-old patient with an SH2B1 variant. After 3 months of treatment, our patient lost 5.4% of body weight. This period was followed by a 3-month period of noncompliance, in which the patient gained 4% body weight. After reinstating daily drug administration, the patient showed a 19.5% reduction in body weight and a clear improvement in all hunger scales after 1 year of treatment.
These results indicate that the changes seen are drug dependent and provide positive evidence for the administration of setmelanotide in adult patients with heterozygous variants in the SH2B1 gene.
单基因肥胖由独特的基因功能障碍引起，常在儿童期出现，并可能伴有神经内分泌、骨骼、发育和行为障碍等其他表现。SH2B1基因的一些变异已被认为是常染色体显性肥胖发生的有力候选因素。
我们在此描述了一名携带SH2B1变异的22岁患者接受司美格鲁肽治疗1年后的临床反应。治疗3个月后，我们的患者体重减轻了5.4%。在此期间之后是3个月的未依从期，患者体重增加了4%。恢复每日给药后，经过1年的治疗，患者体重减轻了19.5%，所有饥饿量表评分均有明显改善。
这些结果表明所观察到的变化依赖于药物，并为在携带SH2B1基因杂合变异的成年患者中使用司美格鲁肽提供了积极证据。
