title: Novel mutations associated with combined pituitary hormone deficiency.
abstract: The pituitary gland produces hormones that play important roles in both the development and the homeostasis of the body. A deficiency of two or several of these pituitary hormones, known as combined pituitary hormone deficiency, may present in infants or children due to an unknown etiology and is considered congenital or idiopathic. Advancements in our understanding of pituitary development have provided a genetic basis to explain the pathophysiological basis of pituitary hormone disease. Nevertheless, there are several challenges to the precise characterization of abnormal genotypes; these exist secondary to the complexities of several of the hypothalamic/pituitary developmental factors and signals, which ultimately integrate in a temporal and spatial dependent manner to produce a mature gland. Furthermore, the clinical presentation of pituitary hormone disease may be dynamic as subsequent hormone deficiencies may develop over time. The characterization of patients with mutations in genes responsible for pituitary development provides an opportunity to discover potential novel mechanisms responsible for pituitary pathophysiology. The focus of this review is to report the most recent mutations in genes responsible for pituitary development in patients with hypopituitarism and emphasize the importance to physicians and researchers for characterizing these patients. Continuing efforts toward understanding the molecular basis of pituitary development as well as genetic screening of patients with pituitary disease will offer new insights into both diagnostic and potential therapeutic options that will decrease the morbidity and mortality in patients with hypopituitarism.
authors: Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 406, Baltimore, Maryland 21208, USA.
authors: Christopher J
authors: CJ
authors: Romero
authors: Elyse
authors: E
authors: Pine-Twaddell
authors: Sally
authors: S
authors: Radovick
mesh_terms: D000818:Animals; D002648:Child; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D009154:Mutation / Q000235:genetics*; D010902:Pituitary Gland / Q000196:embryology / Q000254:growth & development* / Q000503:physiopathology; D010907:Pituitary Hormones / Q000172:deficiency* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D010907:Pituitary Hormones; D014157:Transcription Factors