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: SUMMARY: Knowledge of the molecular defects that underlie pituitary tumorigenesis is crucial for patient care as they guide early intervention, screening for associated conditions, genetic counseling, surgical approach, and choice of medical management. Recently described microduplications of Xq26.3 account for more than 80% of the cases of early-onset pediatric gigantism. Early recognition of X-LAG may improve outcomes, as successful control of growth hormone excess requires extensive anterior pituitary resection and are difficult to manage with medical therapy alone.
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Authors | Maya B Lodish, Giampaolo Trivellin, Constantine A Stratakis |
Journal | Current opinion in endocrinology, diabetes, and obesity
(Curr Opin Endocrinol Diabetes Obes)
Vol. 23
Issue 1
Pg. 72-80
(Feb 2016)
ISSN: 1752-2978 [Electronic] England |
PMID | 26574647
(Publication Type: Journal Article, Research Support, N.I.H., Intramural, Review)
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Topics |
- Gigantism
(genetics, therapy)
- Humans
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