Over the last twenty years, the progress made in molecular biology have led to the identification of many transcription factor genes, whose mutations has been reported as causes of familial hypopituitarism.
Aim: Based on a literature review, this study is intending to highlight the role of some transcription factors in the development of the anterior pituitary gland and to analyse the involvement of their dysfunction in some cases of congenital hypopituitarism.
Methods: Litterature review.
Results: These transcription factors are nuclear proteins expressed specifically in certain target cells, in order to control genes expression. Their role is fundamental in embryonic and foetal development, and particularly in pituitary ontogenesis. Together, they direct the formation of anterior pituitary gland, the differentiation, the expansion and the definitive function of the five pituitary cell types. In this report, after introducing the different stages of anterior pituitary development and differentiation of its cell lines, we will briefly highlight the clinical phenotypes associated with alterations of different transcription factor genes in both murine models and humans.