ElSaeed Gehan, Mousa Noha, El-Mougy Fatma, Hafez Mona, Khodeera Seham, Alhelbawy Mohamed, Fouda Engy, Elsheikh Suzan, ElKaffas Rasha, Eldeeb Sara, Elsharkawy Marwa
Clinical Pathology Department, Faculty of Medicine, Monoufia University, Al Minufiyah, Egypt.
Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Pediatr Obes. 2020 Jan;15(1):e12574. doi: 10.1111/ijpo.12574. Epub 2019 Sep 4.
Early childhood obesity is a public health problem worldwide. It affects different aspects of physical and mental child's health. Identifying the etiologies, especially treatable and preventable causes, can direct health professionals toward proper management. Analysis of serum leptin levels and leptin gene mutations is a rapid and easy step toward the diagnosis of congenital leptin deficiency that is considered an important cause in early childhood obesity.
The aim of this study was to diagnose monogenic leptin deficiency in Egyptian children presenting with early onset obesity (EOO).
The current cross-sectional study included 80 children who developed obesity during the first year of life with BMI > 2 SD (for age and sex). The studied population was subjected to history taking, auxological assessment, serum leptin assay, and leptin gene sequencing.
Ten cases had leptin deficiency (12.5%), while 18 cases showed elevated leptin levels (22.5%). Leptin gene variants in the coding region were identified in 30% of the leptin-deficient group: two novel homozygous disease-causing variants (c.104 T > G and c.34 delC) and another previously reported homozygous pathogenic variant (c.313C > T).
Leptin deficiency is considered a significant cause of monogenic obesity in Egyptian children with early-onset obesity as the diagnosis of these patients would be a perfect target for recombinant leptin therapy.
儿童期肥胖是一个全球性的公共卫生问题。它影响儿童身心健康的不同方面。确定病因，尤其是可治疗和可预防的原因，可指导卫生专业人员进行适当管理。分析血清瘦素水平和瘦素基因突变是诊断先天性瘦素缺乏症的快速简便步骤，先天性瘦素缺乏症被认为是儿童期肥胖的一个重要原因。
本研究的目的是诊断患有早发性肥胖（EOO）的埃及儿童的单基因瘦素缺乏症。
当前的横断面研究包括80名在生命第一年出现肥胖且BMI>2个标准差（根据年龄和性别）的儿童。对研究人群进行病史采集、体格评估、血清瘦素检测和瘦素基因测序。
10例患有瘦素缺乏症（12.5%），而18例瘦素水平升高（22.5%）。在30%的瘦素缺乏组中鉴定出编码区的瘦素基因变异：两个新的纯合致病变异（c.104 T>G和c.34 delC）以及另一个先前报道的纯合致病变异（c.313C>T）。
瘦素缺乏被认为是患有早发性肥胖的埃及儿童单基因肥胖的一个重要原因，因为对这些患者的诊断将是重组瘦素治疗的理想靶点。
