hrp0084p2-517 | Pituitary | ESPE2015

Be Aware of Congenital Panhypopituitarism in Children with a Family History of Polydactyly

Hovinga Idske Kremer , Giltay Jacques , van der Kamp Hetty

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...