Pituitary gigantism: update on molecular biology and management.

ABSTRACT:

Purpose of review

To provide an update on the mechanisms leading to pituitary gigantism, as well as to familiarize the practitioner with the implication of these genetic findings on treatment decisions.

Recent findings

Prior studies have identified gigantism as a feature of a number of monogenic disorders, including mutations in the aryl hydrocarbon receptor interacting protein gene, multiple endocrine neoplasia types 1 and 4, McCune Albright syndrome, Carney complex, and the paraganglioma, pheochromocytoma, and pituitary adenoma association because of succinate dehydrogenase defects. We recently described a previously uncharacterized form of early-onset pediatric gigantism caused by microduplications on chromosome Xq26.3 and we termed it X-LAG (X-linked acrogigantism). The

SUBMITTER: Lodish MB 

PROVIDER: S-EPMC4727441 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature