Screening for Hormonal, Monogenic, and Syndromic Disorders in Obese Infants and Children

Abstract

The prevalence of pediatric obesity in the United States is nearly 17%. Most cases are “exogenous”, resulting from excess energy intake relative to energy expenditure over a prolonged period of time. However, some cases of obesity are “endogenous”, associated with hormonal, genetic, or syndromic disorders such as hypothyroidism, Cushing’s syndrome, growth hormone deficiency, defective leptin signaling, mutations in the melanocortin 4 receptor, and Prader-Willi and Bardet-Biedl syndromes. This article reviews the hormonal, monogenic, and syndromic causes of childhood obesity and identifies critical features that distinguish “endogenous” obesity disorders from the more common exogenous obesity. Findings that raise suspicion for endogenous obesity include onset in infancy, lack of satiety, poor linear growth, dysmorphic features, and cognitive dysfunction. Selection and interpretation of appropriate laboratory tests and indications for subspecialist referral are also discussed.

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

“…Children affected by ALMS, like children with BBS, have visual impairment and deafness that occurs early in life but its incidence is higher in these patients as well as NIDDM, found in up to 70% of individuals by age 20 years [96,97].…”

Addressing Childhood Obesity

“…The following genetic disorders, both syndromic as well as monogenic in origin, predispose children to obesity: Syndromes: trisomy 21, Prader-Willi syndrome, Albright's hereditary osteodystrophy, Cohen syndrome, Bardet-Biedl syndromes, Alstrom syndrome, and WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and retardation) 19,20 .Monogenic disorders: leptin deficiency, leptin receptor mutations, proopiomelanocortin deficiency, preproconvertase deficiency, and melanocortin 4 receptor mutations 19 .Hormonal disorders: hypothyroidism, growth hormone deficiency, Cushing's syndrome, hypothalamic obesity, polycystic ovary syndrome, and hyperprolactinemia 19 .…”

“…Syndromes: trisomy 21, Prader-Willi syndrome, Albright's hereditary osteodystrophy, Cohen syndrome, Bardet-Biedl syndromes, Alstrom syndrome, and WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and retardation) 19,20 .…”

El niño obeso en la Unidad de Cuidados Intensivos. Puesta al día

“…Los casos remanentes son secundarios o "endógenos" y pueden ser ocasionados por trastornos endócrinos, defectos genéticos asociados a obesidad o enfermedades con daño hipotalámico. 3 L a o b e s i d a d i n f a n t o j u v e n i l es un factor de riesgo de diversas enfermedades y está asociada con una importante morbilidad crónica (obesidad adulta) y mortalidad prematura. 4,5 Se ha señalado una disminución de las expectativas de vida de entre 5 y 20 años.…”