ESPE Abstracts

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...