The growth hormone insensitivity syndrome is an inherited form of growth hormone insensitivity featuring the dysmorphic features described by Laron. Patients have a mutation in the growth hormone receptor which does not bind growth hormone, resulting in dwarfism.


Inheritance: autosomal recessive


Clinical findings:

(1) severe growth retardation (dwarfism)

(2) prominent forehead

(3) hypoplasia of the nasal bridge

(4) decreased vertical facial dimension (short face)

(5) high-pitched voice

(6) small male genitalia

(7) delayed tooth eruption

(8) delayed closure of the fontanelles

(9) truncal obesity

(10) increased ratio of upper body to lower body segments (typical for pituitary dwarfs)


Laboratory findings:

(1) hypoglycemia in infancy

(2) high serum concentrations of growth hormone

(3) low basal insulin growth factor I (IGF-I) and binding protein (IGFBP3) levels

(4) no change in IGF-I or IGFBP3 levels after exogenous growth hormone

(5) levels of ACTH, TSH and gonadotropins are normal


Partial growth hormone insensitivity refers to a patient with GH insensitivity but lacking the dysmorphic features.

Differential diagnosis: other forms of growth hormone insensitivity


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