hrp0092p1-104 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Interesting Genotype-Phenotype Differences in Siblings with Familial Hypopituitarism and Pituitary Hypoplasia

Thorley Emma , Huang Lana , Puthi Vijith

Context: The majority of congenital isolated growth hormone deficiency (IGHD) cases are idiopathic.Recent research has shed light on the genetic aetiologies of congenital hypopituitarism. HESX1 and GLI2 are two transcription factors, amongst a cascade of other transcription factors and signalling molecules, involved in the development of the pituitary gland. Mutations in both genes have been shown to cause congenital hypopituitarism with varying phenotypes.</p...