{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T21:25:43Z","timestamp":1789248343277,"version":"build-2803163510"},"reference-count":77,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Barts and The London Charity Clinical Training Research Fellowship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Endocrinology"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>. Germline aryl hydrocarbon receptor-interacting protein (<jats:italic>AIP<\/jats:italic>) mutations are responsible for 15\u201330% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in<jats:italic>AIP<\/jats:italic>, aiming to highlight the indications and benefits of genetic screening, variability in clinical presentations, and management challenges in this setting.<jats:italic>Patients<\/jats:italic>. An 18-year-old male was diagnosed with a clinically nonfunctioning pituitary adenoma (NFPA). Two years later, his brother was diagnosed with a somatolactotrophinoma, and a small Rathke\u2019s cleft cyst and a microadenoma were detected on screening in their 17-year-old sister. Following amenorrhoea, their maternal cousin was diagnosed with hyperprolactinaemia and two distinct pituitary microadenomas. A 12-year-old niece developed headache and her MRI showed a microadenoma, not seen on a pituitary MRI scan 3 years earlier.<jats:italic>Discussion<\/jats:italic>. Out of the 14 members harbouring germline<jats:italic>AIP<\/jats:italic>mutations in this kindred, 5 have pituitary adenoma. Affected members had different features and courses of disease. Bulky pituitary and not fully suppressed GH on OGTT can be challenging in the evaluation of females in teenage years. Multiple pituitary adenomas with different secretory profiles may arise in the pituitary of these patients. Small, stable NFPAs can be present in mutation carriers, similar to incidentalomas in the general population. Genetic screening and baseline review, with follow-up of younger subjects, are recommended in<jats:italic>AIP<\/jats:italic>mutation-positive families.<\/jats:p>","DOI":"10.1155\/2018\/8581626","type":"journal-article","created":{"date-parts":[[2018,4,4]],"date-time":"2018-04-04T19:32:08Z","timestamp":1522870328000},"page":"1-15","source":"Crossref","is-referenced-by-count":13,"title":["Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members\u2019 View in an<i>AIP<\/i>Mutation-Positive Family"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4959-5725","authenticated-orcid":true,"given":"Pedro","family":"Marques","sequence":"first","affiliation":[{"name":"Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, 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