ESPEYB17 1. Pituitary and Neuroendocrinology Clinical Highlights (4 abstracts)
1.10. Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors
Pedro Marques , Francisca Caimari , Laura C. Hernández-Ramírez , David Collier , Donato Iacovazzo , Amy Ronaldson , Kesson Magid , Chung Thong Lim , Karen Stals , Sian Ellard , Ashley B. Grossman & Márta Korbonits (on behalf of The International FIPA Consortium)
To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 30. pii: dgaa040. doi: 10.1210/clinem/dgaa040. PMID: 31996917.
The International FIPA Consortium recommend that aryl hydrocarbon receptor-interacting protein (AIP ) gene mutations are worth screening for prospectively in family members of AIPmut patients, and the detected carriers should be clinically followed. AIP gene mutations account for one fifth of familial isolated pituitary adenoma patients, but they can also present sporadically particularly in young patients due to incomplete penetrance. When pituitary neuroendocrine tumors are diagnosed earlier, they are smaller, and patients have fewer pituitary hormone deficiencies and require fewer treatments. If you wish to learn more on the AIP saga, we recommend reading Chahal et al. 2011, NEJM, 364: 43–50.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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