Searchable abstracts of presentations at key conferences in endocrinology

ea0032p894 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Familiar panhypopituitarism by a mutation in PROP1: four of seven brothers affected

Lau Eva , Freitas Paula , Coutinho Eduarda , Lemos Manuel , Carvalho Davide

Introduction: Generously supported by IPSEN)-->PROP1 (Prophet of Pit-1) mutations are the most frequent genetic cause of panhypopituitarism, a condition associated with a deficiency or inadequate production of hormones of the anterior pituitary. The PROP1 gene encodes a transcription factor involved in the ontogeny, differentiation and function of somatotrophs, lactotrophs and thyrotrophs. These mutations are characterized by a remar...