Abstract
Growth hormone insensitivity (GHI) may be primary, caused by defects in the GH receptor, or further along the GH-insulin-like growth factor-I (IGF-I) axis, or secondary, resulting from a variety of illnesses or malnutrition affecting various steps in the pathway from the GH binding to IGF-I action. GH receptor deficiency, although rare, with only 229 cases reported, is the most common cause of primary GHI. Most patients are of Jewish, Arab, or other Mediterranean origin, the largest cohort being Catholics of Jewish origin coming from a small area in southern Ecuador, who account for one third of known cases. This large cohort has provided insight into the clinical features, growth characteristics, biochemical features, and effects of treatment with recombinant IGF-I. The Ecuadorian patients share a splice site mutation in the GH receptor gene with at least one Israeli patient of Iberian origin; 27 other mutations and a major deletion have been described in other affected patients.
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