Department of Endocrinology and Metabolism, University of Health Sciences Ankara Training and Research Hospital, Ankara, Turkey.
Department of Medical Genetics, MULTIGEN Genetic Diseases Evaluation Center, İzmir, Turkey.
Obes Res Clin Pract. 2021 Nov-Dec;15(6):600-603. doi: 10.1016/j.orcp.2021.11.001. Epub 2021 Nov 19.
Congenital leptin deficiency (CLD) is a rare cause of monogenic form obesity due to homozygous or compound heterozygous mutations in the LEP gene. To date, nine pathogenic mutations have been reported. In this study, we present are; an 18-year-old morbidly obese girl and a 14-year-old obese brother, both with homozygous mutation in the LEP gene [p.R105W (c313C> T)] and their data after three years of recombinant leptin treatment. To date, few cases of CLD have been reported in the literature. The cases reported here were siblings who were not diagnosed despite presentation at the clinic due to obesity in childhood, and diagnosis was delayed until adolescence. Clinicians need to consider CLD, a monogenic form of obesity in children with early severe obesity onset, especially if they are the child of a consanguineous marriage.
先天性瘦素缺乏症（CLD）是一种罕见的单基因肥胖症，由于 LEP 基因突变导致纯合子或复合杂合子。迄今为止，已有九种致病性突变被报道。在本研究中，我们报告了一例 18 岁的病态肥胖女孩和一例 14 岁的肥胖男孩，他们均携带 LEP 基因 [p.R105W (c313C>T)]的纯合突变，以及他们接受重组瘦素治疗三年后的数据。迄今为止，文献中报道的 CLD 病例很少。这里报告的病例是兄弟姐妹，尽管他们因童年肥胖而在诊所就诊，但由于肥胖，他们没有被诊断出来，直到青春期才被诊断出来。临床医生需要考虑 CLD，这是一种儿童期起病早且严重肥胖的单基因肥胖症，尤其是如果他们是近亲结婚的孩子。
