The molecular basis of hypopituitarism.
Hypopituitarism is defined as the deficiency of one or more of the hormones secreted by the pituitary gland. Several developmental factors necessary for pituitary embryogenesis and hormone secretion have been described, and mutations of these genes in humans provide a molecular understanding of hypopituitarism. Genetic studies of affected patients and their families provide insights into possible mechanisms of abnormal pituitary development; however, mutations are rare. This review characterizes several of these developmental proteins and their role in the pathogenesis of hypopituitarism. Continuing research is required to better understand the complexities and interplay between these pituitary factors and to make improvements in genetic diagnosis that can lead to early detection and provide a future cure.
Department of Pediatrics, The Johns Hopkins University School of Medicine, CMSC 4-106, Baltimore, MD 21208, USA.
Christopher J
CJ
Romero
Suzana
S
Nesi-França
Sally
S
Radovick
D000818:Animals; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics / Q000378:metabolism*; D008954:Models, Biological; D010902:Pituitary Gland / Q000196:embryology / Q000378:metabolism; D010907:Pituitary Hormones / Q000172:deficiency / Q000235:genetics
D010907:Pituitary Hormones