9
a
Measure insulin and proinsulin in patients with clinical features of PCSK1 deficiency.
Adapted from: August GP et al. J Clin Endocrinol Metab. 2008;93:4576–4599. with permission,
©Endocrine Society. Republished with permission of Springer Science and Bus Media BV 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
Genetic Obesity
Syndrome Clinical Features
Obesity WITH Developmental Delay
Dominant
Prader-Willi
syndrome
Hypotonia, failure to thrive in infancy followed by weight
gain, short stature (due to GH deficiency), hyperphagia,
hypogonadotropic hypogonadism, sleep disturbance, obsessive
behaviors
Albright's
hereditary
osteodystrophy
Short stature in some but not all patients, skeletal defects,
impaired olfaction, and hormone resistance (e.g., parathyroid
hormone) if a mutation is maternally inherited
SIM1 deficiency Hyperphagia with autonomic dysfunction (characterized
by low systolic blood pressure), speech and language delay,
neurobehavioral abnormalities, including autistic type behaviors
BDNF/TrkB
deficiency
Hyperactivity, impaired concentration, limited attention span,
impaired short-term memory and pain sensation
Recessive
Bardet-Biedl
syndrome
Dysmorphic extremities (syndactyly/brachydactyly/polydactyly),
retinal dystrophy or pigmentary retinopathy, hypogonadism, renal
abnormalities/impairment
TUB deficiency Retinal dystrophy, deafness
Figure 1. Diagnosis and Management Flowchart —footnotes
