Genetic causes of combined pituitary hormone deficiencies in humans

作者：Castinetti Frederic; Reynaud Rachel; Saveanu Alexandru; Barlier Anne; Brue Thierry^*

来源：Annales d'Endocrinologie, 2012, 73(2): 53-55.

DOI：10.1016/j.ando.2012.03.025

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.

• 出版日期2012-4