Peer-reviewed article
Pediatric genetic obesity: From molecular pathophysiology to precision therapeutics
Abhishek J. Kulkarni, Amulya Andalat Dileepkumar, Joewin Monteiro ·
Summary
Written by AI, not yet AICS's view · claude-sonnet-5-5This chapter looks at the genetic causes of obesity in children, from single-gene defects in the leptin-melanocortin pathway and syndromic conditions to polygenic predisposition. It describes warning signs that should lead to blood tests and genetic testing. It sets out a practical approach to screening, biochemical work-up and stepwise genetic testing. It also gives an overview of drug treatments, including targeted ones, and advice on when to refer a child to a pediatric endocrinologist.
Key points
- Childhood obesity has a range of genetic contributors, from monogenic and syndromic causes to polygenic predisposition.
- Red flags include severe onset before age 5, extreme hyperphagia, consanguinity and dysmorphic features.
- Red flags should prompt biochemical and genetic evaluation.
- A growing number of these conditions now have targeted pharmacotherapy.
- The chapter gives guidance on referral to a pediatric endocrinologist.
Limitations
Only the abstract was available, so no data, methods or country-specific findings can be assessed. The metadata hints at India (IN), but the abstract does not name any country, so none is listed.
Abstract
Childhood obesity results from a spectrum of genetic contributors, ranging from monogenic leptin-melanocortin pathway defects and syndromic causes to polygenic predisposition. Early recognition of red flags—severe onset before the age of 5 years, extreme hyperphagia, consanguinity, or dysmorphic features—should prompt biochemical and genetic evaluation, since a growing number of these conditions now have targeted pharmacotherapy. This chapter outlines a practical approach to clinical screening, biochemical work-up, and tiered genetic testing for suspected monogenic or syndromic obesity, along with an overview of precision and broader pharmacologic options, and offers guidance on when affected children should be referred to a pediatric endocrinologist.