FOXA2 as a Candidate Gene Responsible for Congenital Panhypopituitarism: A Review of the Literature

Abstract The pituitary gland produces hormones that regulate multiple functions including growth, metabolism, reproduction, and homeostasis. Thus, congenital hypopituitarism (CH) can have profound widespread repercussions on physiological balance. Recent research identified the forkhead box A2 transcription factor (FOXA2) as a candidate gene responsible for CH. We sought to review literature mouse models case reports describing FOXA2 mutations, shed more light potential role of this in Using pretested search strategy, we searched PubMed database, only original articles reporting mutations human reports. A total 10 studies different Foxa2 were included. These works described involvement regulation murine organogenesis. was found participate development ventral midline structures endodermal-derived organs. In addition, when mutated, it determine defects node, notochord neural tube, precursors gland. also important effects glucose homeostasis its deficiency is characterized by hyperinsulinemic hypoglycaemia. Regarding reports, 5 cases nonsynonymous missense identified. All localized DNA binding domain, which might expression tissue-specific genes cell differentiation. Panhypopituitarism prominent feature among well hypoglycaemia infancy with abnormal later life. Additional 6 patients varying deletions 20p11.2 encompasses selected. addition panhypopituitarism, several other dysmorphic features, affecting face cardiac, gastrointestinal genital systems. Authors proposed region approximately 1.35 Mb covers around 17 genes, FOXA2, critical associated hypopituitarism. However, deleted from are central nervous system pancreas may be observed phenotype these patients. Considering evidence, seems strong further required elucidate development, genetic cause drive haploinsufficiency determining