Molecular tools for diagnosing diseases of the adrenal cortex

Author:

Faucz Fabio R.1,Maria Andrea G.2,Stratakis Constantine A.34

Affiliation:

1. Molecular Genomics Core (MGC)

2. Section on Endocrinology and Genetics,Eunice Kennedy ShriverNational Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

3. ELPEN Pharmaceuticals, Pikermi & H. Dunant Hospital, Athens

4. Human Genetics & Precision Medicine, IMBB, FORTH, Heraklion, Greece

Abstract

Purpose of review The adrenal glands produce some of the most essential for life hormones, including cortisol and other steroids, and catecholamines. The former is produced from the adrenal cortex, whereas the latter is from the medulla. The two parts are anatomically and functionally distinct and it would be impossible in the context of one short article to cover all molecular updates on both the cortex and the medulla. Thus, in this review, we focus on the molecular tools available for diagnosing adrenocortical diseases, such as adrenal insufficiency, Cushing and Conn syndromes, and their potential for advancing medical care and clinical outcome. Recent findings The advent of next generation sequencing opened doors for finding genetic diseases and signaling pathways involved in adrenocortical diseases. In addition, the combination of molecular data and clinicopathologic assessment might be the best approach for an early and precise diagnosis contributing to therapeutic decisions and improvement of patient outcomes. Summary Diagnosing adrenocortical diseases can be challenging; however, the progress of molecular tools for adrenocortical disease diagnosis has greatly contributed to early detection and to meliorate patient outcomes.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Nutrition and Dietetics,Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine

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