Genetic Disorders of Adrenocortical Function View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2016

AUTHORS

Fady Hannah-Shmouni , Constantine A. Stratakis

ABSTRACT

The first detailed description of the human adrenal glands was by Eustachius (1520–1574); their presence was confirmed by Piccolomini (1562–1605) and Casserius (1552–1616) (Vrezas et al. 2000). Their function, however, was largely unknown until the late nineteenth century. In the last 30 years, our growing understanding of adrenocortical development and function has led to the discovery of numerous genetic disorders that affect the adrenal glands. Developmental pathways have also been linked to the formation of adrenocortical tumors (ACTs), which represent a heterogeneous group of lesions of the adrenal cortex. ACTs have been found to be due to or associated with somatic or germline mutations in key molecular pathways, including the cyclic AMP (cAMP) and Wnt signaling pathways. In this chapter, we review the various genetic causes of adrenocortical disorders and focus on congenital causes of adrenal insufficiency associated with hypoplasia of the adrenal glands, genetic causes of autoimmunity that affect the adrenal glands, and genetic causes of benign and malignant adrenocortical tumors. More... »

PAGES

1-37

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    TITLE

    Principles of Endocrinology and Hormone Action

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    978-3-319-27318-1

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    http://scigraph.springernature.com/pub.10.1007/978-3-319-27318-1_29-1

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    http://dx.doi.org/10.1007/978-3-319-27318-1_29-1

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