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Endocrine Abstracts

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ea0094p91 | Neuroendocrinology and Pituitary | SFEBES2023

A novel AIP deletion emphasising the variable phenotype of AIP-related pituitary neuroendocrine tumours

Benjamin Loughrey Paul , J Morrison Patrick , K Ellis Peter , R Mullan Karen , Korbonits Marta

A 16-year-old female presented with secondary amenorrhoea. Menarche was age 14 years and periods were less frequent over the preceding 12 months. There was no galactorrhoea, headache or visual field disturbance and no known family history of pituitary disease, tall stature or infertility. There were no clinical signs of Cushing’s disease or acromegaly and visual fields were full to confrontation. Height was 160 cm. Investigations showed a prolactin of 2,452 mIU/l (RR 102-...
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ea0038p304 | Pituitary | SFEBES2015

The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland

Radian Serban , Diekmann Yoan , Gabrovska Plamena , Holland Brendan , Bradley Lisa , Wallace Helen , Stals Karen , Bussell Anna-Marie , McGurren Karen , Cuesta Martin , Ryan Anthony W , Herincs Maria , Hernandez-Ramirez Laura C , Holland Aidan , Samuels Jade , Aflorei Elena Daniela , Barry Sayka , Denes Judit , Pernicova Ida , Stiles Craig E , Trivellin Giampaolo , McCloskey Ronan , Ajzensztejn Michal , Abid Noina , Akker Scott A , Mercado Moises , Cohen Mark , Thakker Rajesh V , Baldeweg Stephanie , Barkan Ariel , Musat Madalina , Levy Miles , Orme Steve , Unterlander Martina , Burger Joachim , Kumar Ajith V , Ellard Sian , McPartlin Joseph , McManus Ross , Linden Gerard J , Atkinson Brew , Thomas Mark G , Balding David J , Agha Amar , Thompson Chris J , Hunter Steve J , Morrison Patrick J , Korbonits Marta

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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