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- W41193781 startingPage "83" @default.
- W41193781 abstract "Growth hormone deficiency (GHD) in patients is diagnosed as an isolated finding or in combination with other pituitary hormone deficiencies and classified as combined pituitary hormone deficiency (CPHD). Although any type of neurological insult such as trauma, radiation, or surgery place the pituitary at risk for injury and potential destruction of somatotrophs, a subgroup of patients develop idiopathic GHD who do not have a clear etiology. Advancements in understanding cellular and organ development as well as the availability of sophisticated genetic techniques have provided a molecular basis for some cases of idiopathic GHD. Genetic screening for mutations in pituitary development factors has resulted in the identification of a series of abnormalities in patients with GHD, resulting in hormone deficiency. Unfortunately, the incidence of identified mutations in this group remains low, and quite often, there is a wide spectrum of clinical presentations, which makes correlations between genotypes and abnormal phenotypes difficult. Nevertheless, the characterization of patients with GHD and the ongoing research efforts to decipher the complexities of pituitary development provide insight into the molecular basis of hypopituitarism. This chapter reviews the genetic defects that have been characterized in the hypothalamic-pituitary axis resulting in a deficiency of GH. Furthermore, it emphasizes the importance of continuing research efforts, which will offer physicians the means of determining a genetic etiology for patients with GHD and researchers the tools to develop definitive therapeutic options." @default.
- W41193781 created "2016-06-24" @default.
- W41193781 creator A5012068391 @default.
- W41193781 creator A5015027619 @default.
- W41193781 creator A5070887020 @default.
- W41193781 date "2011-01-01" @default.
- W41193781 modified "2023-09-27" @default.
- W41193781 title "Molecular Genetics of Congenital Growth Hormone Deficiency" @default.
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