Endocrine Abstracts

Background: Growth Hormone Insensitivity is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature, high GH levels, low IGF-I levels and typical Laron syndrome facial features. Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c.618+792A>G). The inclusion of this pseudoexon is predicted to cause in-frame insertion of 36 amino acid residues between exons 6 and 7. This insertion in the ...