Congenital hypopituitarism is a group of rare diseases associated with decreased or absent secretion of one or more pituitary hormones. It is currently known that the development of diseases of this group is associated with mutations in more than 30 genes responsible for the development of the hypothalamic-pituitary region. The variability of the clinical picture is attributable to a molecular genetic basis. However, a clear correlation between genotype and phenotype is not always possible to determine, since even members of the same family with the same mutation may have different clinical manifestations. This review considers known as well as rarely encountered transcription factors and signaling molecules, molecular defects that lead to the development of isolated and combined pituitary hormone deficiency in humans.

Keywords: multiple pituitary hormone deficiency, isolated growth hormone deficiency, congenital hypopituitarism