Endocrine Abstracts

Mutations in genes encoding pituitary-specific factors have been identified in patients with idiopathic isolated GH deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), with or without neuro-morphological abnormalities. We screened 205 IGHD (M/F:131/74; 183 sporadic and 22 belonging to 12 families) for mutations in GH1, GHRH-R, HESX1 and 129 CPHD, (M/F:75/54; 118 sporadic and 13 belonging to 9 families) for mutations in PIT1, PROP1, <i...