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垂体功能减退症的分子基础。

The molecular basis of hypopituitarism.

机构信息

Department of Pediatrics, The Johns Hopkins University School of Medicine, CMSC 4-106, Baltimore, MD 21208, USA.

出版信息

Trends Endocrinol Metab. 2009 Dec;20(10):506-16. doi: 10.1016/j.tem.2009.06.005. Epub 2009 Oct 23.

Abstract

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.

摘要

垂体功能减退症定义为垂体分泌的一种或多种激素缺乏。已经描述了几个对垂体胚胎发生和激素分泌至关重要的发育因素,并且这些基因的人类突变提供了对垂体功能减退症的分子理解。受影响患者及其家人的遗传研究提供了对异常垂体发育可能机制的深入了解;然而,突变很少见。这篇综述描述了其中几种发育蛋白及其在垂体功能减退症发病机制中的作用。需要进一步研究以更好地了解这些垂体因子之间的复杂性和相互作用,并改进遗传诊断,从而实现早期发现并提供未来的治疗方法。

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The molecular basis of hypopituitarism.垂体功能减退症的分子基础。
Trends Endocrinol Metab. 2009 Dec;20(10):506-16. doi: 10.1016/j.tem.2009.06.005. Epub 2009 Oct 23.
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Novel mutations associated with combined pituitary hormone deficiency.与联合垂体激素缺乏相关的新突变。
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