Overweight results from a dysregulation of caloric intake and energy expenditure. A complex interplay between each individual's genetic predispositions and the environment affects an intricate system that controls appetite and energy expenditure.
| SYNDROME | MANIFESTATION |
|---|---|
| Alström syndrome | Hypogonadism, retinal degeneration, deafness, diabetes mellitus |
| Bardet-Biedl syndrome | Retinal degeneration, syndactyly, polydactyly, hypogonadism, mental retardation, autosomal recessive |
| Carpenter syndrome | Polydactyly, syndactyly, cranial synostosis, mental retardation |
| Cohen syndrome | Midchildhood-onset obesity, short stature, prominent maxillary incisors, hypotonia, mental retardation, microcephaly, decreased visual activity |
| Cushing syndrome | Adrenal hyperplasia or pituitary tumor |
| Deletion 9q 34 | Early-onset obesity, mental retardation, brachycephaly, synophrys, prognathism, behavior and sleep disturbances |
| ENPP1 gene mutations | Insulin resistance, childhood obesity, chromosome 6q |
| Fröhlich syndrome | Hypothalamic tumor |
| Hyperinsulinism | Nesidioblastosis, pancreatic adenoma, hypoglycemia, Mauriac syndrome (poor diabetic control) |
| Leptin or leptin receptor gene mutation | Early-onset severe obesity, infertility (hypogonadotropic hypogonadism); uncommon;leptin deficiency treatable with recombinant leptin |
| Melanocortin 4 receptor gene mutation | Early-onset severe obesity, increased linear growth, hyperphagia, hyperinsulinemia; homozygous worse than heterozygous; common genetic cause of obesity |
| Muscular dystrophy | Late-onset obesity due in part to inactivity |
| Myelodysplasia | Spina bifida due in part to inactivity |
| Prader-Willi syndrome | Neonatal hypotonia, normal growth immediately after birth, small hands and feet, mental retardation, hypogonadism; some have partial deletion of chromosome 15 and loss of paternally expressed genes; hyperphagia leading to severe childhood obesity; ghrelin paradoxically elevated |
| Pro-opiomelanocortin deficiency | Obesity, red hair, adrenal insufficiency, hyperproinsulinemia |
| Pseudohypoparathyroidism | Variable hypocalcemia, cutaneous calcifications |
| Turner syndrome | Ovarian dysgenesis, lymphedema, web neck, XO chromosome |
Reference:
Nelson Textbook of Pediatrics 18th Edition