Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

Abstract excerpt

Background Pituitary development and GH secretion are orchestrated by multiple genes including GH1 , GHRHR , GLI2 , HESX1 , LHX3 , LHX4 , PROP1 , POU1F1 , and SOX3 . We aimed to assess their mutation frequency and clinical relevance in children with severe GH deficiency (GHD). Methods The Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS; Clinical Trial Registry Number: NCT01088412)...