A toddler with a novel LEPR mutation

Armagan C., Yilmaz C., Koc A., Abacı A., Ülgenalp A., Böber E., ...More

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, vol.18, no.2, pp.237-240, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.1007/s42000-019-00097-6
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.237-240
  • Keywords: Early-onset obesity, Monogenic obesity, Setmelanotide, Leptin Receptor, Mutation, EARLY-ONSET OBESITY, LEPTIN RECEPTOR, CHILDREN
  • Dokuz Eylül University Affiliated: Yes


There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. This pathway controls hypothalamic regulation of food intake. A few cases have been reported to have mutations in leptin (LEP) or leptin receptor (LEPR) genes. The cases had severe early-onset obesity, hyperphagia, and additional features, such as altered immune function, hypogonadism, and hypothyroidism. We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR.