Abstract

Isolated growth hormone deficiency (IGHD) is a disorder that leads to short stature. It has been classified into types IA, IB, II and III. GH gene mutations and growth hormone releasing hormone (GHRH) receptor gene mutations have been described in patients with IGHD. We report here a clinical and molecular study of 27 Chilean patients with IGHD. We performed GH stimulation tests with GHRH and GHRP, and segregation and molecular analysis of the GH, GHRH and GHRH receptor genes. We describe four patients with IGHD IA bearing a 7 kb mutation (13%), and two IGHD II patients who showed two different splice site point mutations (6.8%). In 21 patients, we did not find a mutation in any of the three genes examined. These results led us to conclude that the molecular causes of IGHD involve other genes besides those analyzed in this report, as has been reported previously in patients of different ethnic origins.