Growth Hormone Receptor in Growth
ABSTRACT It has been approximately 20 years since the cloning and characterization of the human growth hormone (GH) receptor, GHR, gene. Cell-surface GHR binds circulating GH, which promotes postnatal growth by regulating the expression of insulin-like
growth factor (IGF)-I. Mutations in the GHR gene cause GH insensitivity (GHI) syndrome, also known as Laron syndrome, a syndrome characterized by severe postnatal growth
retardation and low serum IGF-I concentrations in the presence of normal or elevated GH levels. Over 70 GHR mutations have been reported, with majority of the mutations found in exons encoding for the extracellular domain of the
GHR. Inheritance of GHR mutations is predominantly autosomal recessive. Evaluating the impact of identified mutations on GHR structure and function
is important to understand the pathophysiology of the disease. Therapeutic options for patients carrying mutations in the
GHR gene have recently expanded to include recombinant IGF-I therapy.
KeywordsGrowth hormone insensitivity-Growth hormone receptor-IGF-I deficiency