title: Genetic causes of combined pituitary hormone deficiencies in humans.
abstract: Congenital hypopituitarism is a rare disease, usually induced by mutations of genes coding for transcription factors involved in pituitary development. PROP1 mutations represent the first cause of identified congenital hypopituitarism. Current techniques only identify 10-20% of congenital hypopituitarism etiologies, suggesting that new techniques are needed to improve this ratio. This should lead to a better management and follow-up of patients presenting with combined pituitary hormone deficiencies.
authors.affiliation: Unité mixte de recherche, centre de recherche en neurobiologie et neurophysiologie de Marseille, faculté de médecine de Marseille, Aix-Marseille université, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Castinetti
authors.forename: Rachel
authors.initials: R
authors.lastname: Reynaud
authors.forename: Alexandru
authors.initials: A
authors.lastname: Saveanu
authors.forename: Anne
authors.initials: A
authors.lastname: Barlier
authors.forename: Thierry
authors.initials: T
authors.lastname: Brue
mesh_terms: D005796:Genes; D020022:Genetic Predisposition to Disease; D006801:Humans; D007018:Hypopituitarism / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D009154:Mutation / Q000502:physiology; D010907:Pituitary Hormones / Q000172:deficiency*
chemical_list: D010907:Pituitary Hormones