Genetic Defects during Later Stages of Pituitary Development: The Clinical Phenotype of Pit-1 and Prop-1 Mutations.

概要

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Multiple pituitary hormone deficiency (MPHD) is associated with defects in transcription factors that are expressed during the development of the anterior pituitary gland. Genetic defects of factors with an expression during early pituitary development result in complex combinations of multiple pituitary hormone deficiencies with anatomical abnormalities of the central nervous system and midline structures (i.e. HesX-1 and Ptx-2). Mutations of transcription factors with an expression during late pituitary development (i.e. Pit-1 and Prop-1) create multiple pituitary hormone deficiency but little if any anatomical abnormality of the hypothalamo-pituitary area. Although the onset of the disorder is during the embryological development of the pituitary and both Pit-1 and Prop-1 mutations finally lead to severe forms of pituitary hormone deficiencies, the full clinical picture may only manifest itself after years of an insidious onset that can create some diagnostic problems. The molecular diagnosis of this disorder therefore gains importance in cases where in addition to Growth Hormone (GH) deficiency further hormonal deficits are suspected although they might not be clearly evident. Ongoing research concentrates on further factors involved in the differentiation and proliferation of cells that belong to the hypothalamo-pituitary growth axis.
日本小児内分泌学会の論文