Disorder | Key features |
Hypothyroidism | Decreased linear growth, mildly accelerated weight gain, mostly due to fluid retention. Altered school performance, sluggishness, constipation, pubertal delay. |
Cortisol excess (corticosteroid medication, Cushing syndrome) | Decreased linear growth, mildly or moderately accelerated weight gain, with central fat distribution. Suprascapular fat pad, violaceous striae, acne, hirsutism, signs of insulin resistance, neuropsychological changes. |
Growth hormone deficiency | Decreased linear growth, mildly accelerated weight gain, delayed bone age. Cherubic face with underdeveloped nasal bridge. |
Pseudohypoparathyroidism type 1a (Albright hereditary osteodystrophy) | Obesity with round facies, short stature, short fourth metacarpal bones, developmental delay, hypocalcemia, subcutaneous calcifications, and hyperparathyroid bone disease. |
Hypothalamic lesions | |
After brain surgery (eg, for craniopharyngioma) | Abrupt very rapid weight gain, hyperphagia. Often associated with panhypopituitarism. |
Diencephalic tumor | Variable onset; may include headache, vomiting, vision defects, and other symptoms of increased intracranial pressure. |
ROHHAD/ROHHADNET syndrome | Rapid onset of obesity, central hypoventilation, and autonomic dysregulation (may include hyperthermia or hypothermia), with or without neural crest tumors. Onset typically during early childhood. Possible immune-mediated mechanism. In the past, some cases of apparent "idiopathic" hypothalamic obesity may have been ROHHAD without the hypoventilation. |
Congenital central hypoventilation syndrome (early- or late-onset) | Prominent central hypoventilation and autonomic dysfunction; associated with PHOX2B gene mutations. Obesity is not a prominent symptom, and the reported association may be due to historical misclassification of ROHHAD. |
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