Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency.

ABSTRACT:

Background

Rare genetic variations in the leptin-melanocortin signalling pathway can severely impair appetite regulation and cause extreme obesity in early childhood.

Case presentation

Our case reports describe the diagnostic and therapeutic procedures in a girl as well as in a non-related boy of non-consanguineous, German parents with severe early-onset obesity, pronounced hyperphagia, and permanent food-seeking behaviour. Excessive weight gain within the first year of life initiated extensive diagnostics without finding a causal diagnosis. Furthermore, a wide range of intensive, interdisciplinary, and behavioural therapies for weight control were unsuccessful. Prior to bariatric surgery, the 18-year-old girl and the 14-year-old boy reached a BMI of 67.7 kg/m² an

SUBMITTER: Zorn S 

PROVIDER: S-EPMC7606406 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature