Searchable abstracts of presentations at key conferences in endocrinology

ea0066p73 | Pituitary | BSPED2019

Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity

Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , del Giudice Emanuele Miraglia , Kostalova Ludmila , Vitariusova Eva , Hwa Vivian , Metherell Louise A , Storr Helen L

Introduction: Growth Hormone Insensitivity (GHI) is characterised by a triad of short stature (SS), IGF-1 deficiency and normal/high GH levels. ‘Classical’ GHI due to homozygous exonic GHR mutations results in extreme SS with dysmorphic and metabolic abnormalities. Heterozygous exon 9 GHR mutations are rare and exert dominant negative effects due to impairment of GHR dimerization/downstream signalling associated with a milder GHI phenotype. Only sev...