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Published on: February 25, 2022
Genetic causes of combined pituitary hormone deficiencies in humans
Frédéric Castinetti1, Rachel Reynaud, Alexandru Saveanu
1Unité mixte de recherche, centre de recherche en neurobiologie et neurophysiologie de Marseille, faculté de médecine de Marseille, Aix-Marseille université, France.
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.
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