Two copies of mutant gene may trigger rare adrenal disorder

Mutation found by NIH, French team may allow for early identification of patients

Many cases of a rare disorder of the adrenal glands appear to result from two copies of a mutant gene, according to a research team made up of scientists in France and at the U.S. National Institutes of Health. The adrenal disorder, Corticotropin-independent macronodular adrenal hyperplasia External Web Site Policy, results in the formation of numerous tumors in the adrenal glands located on top of the kidneys, and which produce hormones that help the body respond to stress. The condition is one of many causes of Cushing’s syndrome, a group of symptoms resulting from an excess of cortisol, a stress hormone. Untreated, Cushing syndrome can result in high blood pressure, heart disease, bone loss, diabetes, and other health problems.

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This page was last updated on Friday, January 21, 2022