Screening for hormonal, monogenic, and syndromic disorders in obese infants and children

Area of Science:

• Pediatrics
• Endocrinology
• Genetics

Background:

• Pediatric obesity prevalence in the US is nearly 17%.
• Most cases are exogenous (excess energy intake vs. expenditure).
• A subset of cases are endogenous, linked to hormonal, genetic, or syndromic disorders.

Purpose of the Study:

• To review hormonal, monogenic, and syndromic causes of childhood obesity.
• To identify critical features distinguishing endogenous from exogenous obesity.
• To discuss laboratory testing and subspecialist referral for suspected endogenous obesity.

Main Methods:

• Literature review of hormonal, genetic, and syndromic causes of pediatric obesity.
• Analysis of clinical features suggestive of endogenous obesity.
• Discussion of diagnostic approaches, including laboratory tests and referral criteria.

Main Results:

• Endogenous obesity is associated with specific hormonal (e.g., hypothyroidism, Cushing's syndrome), genetic (e.g., leptin signaling defects, MC4R mutations), and syndromic (e.g., Prader-Willi, Bardet-Biedl) disorders.
• Key indicators for endogenous obesity include infantile onset, lack of satiety, poor linear growth, dysmorphic features, and cognitive dysfunction.
• Guidelines for laboratory testing and subspecialist referral are provided.

Conclusions:

• Differentiating endogenous from exogenous pediatric obesity is crucial for appropriate management.
• Specific clinical findings and diagnostic tests aid in identifying underlying causes of endogenous obesity.
• Timely referral and targeted investigations are essential for children with suspected endogenous obesity.