Prevention
10
Obesity WITHOUT Developmental Delay
Dominant
Alström syndrome Retinal dystrophy; extreme insulin resistance; deafness; dilated
cardiomyopathy; progressive pulmonary, hepatic, and renal
dysfunction
MC4R deficiency Hyperphagia, accelerated linear growth, disproportionate
hyperinsulinemia, low/normal blood pressure
SH2B1 deficiency Hyperphagia, disproportionate hyperinsulinemia, early speech and
language delay that oen resolves, behavioral problems including
aggression
KSR2 deficiency Mild hyperphagia and reduced basal metabolic rate, insulin
resistance oen with acanthosis nigricans, irregular menses, early
development of T2DM
Recessive
Leptin deficiency Extreme hyperphagia, frequent infections, hypogonadotropic
hypogonadism, mild hypothyroidism
Leptin receptor
deficiency
Extreme hyperphagia, frequent infections, hypogonadotropic
hypogonadism, mild hypothyroidism
POMC deficiency Hyperphagia, cholestatic jaundice or adrenal crisis due to ACTH
deficiency, pale skin, and red hair in whites
PCSK1 deficiency Small bowel enteropathy, hypoglycemia, hypothyroidism, ACTH
deficiency, diabetes insipidus
Republished from Farooqi S and O'Rahilly S In: Grant S, ed. e Genetics of Obesity.
New York, NY: Springer; 2104:23–32. Permission conveyed through Copyright
Clearance Center, Inc.
Table 3. Genetic Obesity Syndromes With and Without
Developmental Delay (cont'd)
Genetic Obesity
Syndrome Clinical Features
