PMID- 29264566 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20201001 IS - 2472-1972 (Print) IS - 2472-1972 (Electronic) IS - 2472-1972 (Linking) VI - 1 IP - 9 DP - 2017 Sep 1 TI - Insulinoma and Tuberous Sclerosis: A Possible Mechanistic Target of Rapamycin (mTOR) Pathway Abnormality? PG - 1120-1123 LID - 10.1210/js.2017-00160 [doi] AB - A 23-year-old New Zealand Maori male with tuberous sclerosis (TSC) and associated neurocognitive abnormalities presented with altered behavior and increasing seizure frequency. Endogenous hyperinsulinemia from an underlying insulinoma was confirmed and this was managed surgically. This case represents only the sixth description of insulinoma in TSC to date. The role of the hamartin-tuberin complex in regulation of the mechanistic target of rapamycin pathway provides a plausible pathogenetic mechanism between insulinoma and TSC. This rare disease association should be considered in TSC patients who present with otherwise unexplained worsening neurocognitive symptoms. FAU - Kang, Michael Yoon AU - Kang MY AD - Department of General Medicine, Middlemore Hospital, Auckland 2104, New Zealand. FAU - Yeoh, Joey AU - Yeoh J AD - Department of General Medicine, Middlemore Hospital, Auckland 2104, New Zealand. AD - Department of Endocrinology, Middlemore Hospital, Auckland 2104, New Zealand. FAU - Pondicherry, Ashwini AU - Pondicherry A AD - Department of General Surgery, Middlemore Hospital, Auckland 2104, New Zealand. FAU - Rahman, Habib AU - Rahman H AD - Department of General Surgery, Middlemore Hospital, Auckland 2104, New Zealand. FAU - Dissanayake, Ajith AU - Dissanayake A AD - Department of Endocrinology, Middlemore Hospital, Auckland 2104, New Zealand. LA - eng PT - Case Reports DEP - 20170717 PL - United States TA - J Endocr Soc JT - Journal of the Endocrine Society JID - 101697997 PMC - PMC5686638 OTO - NOTNLM OT - insulinoma OT - mTOR pathway OT - neoplasia OT - tuberous sclerosis EDAT- 2017/12/22 06:00 MHDA- 2017/12/22 06:01 PMCR- 2017/07/17 CRDT- 2017/12/22 06:00 PHST- 2017/04/07 00:00 [received] PHST- 2017/07/12 00:00 [accepted] PHST- 2017/12/22 06:00 [entrez] PHST- 2017/12/22 06:00 [pubmed] PHST- 2017/12/22 06:01 [medline] PHST- 2017/07/17 00:00 [pmc-release] AID - JS_201700160 [pii] AID - 10.1210/js.2017-00160 [doi] PST - epublish SO - J Endocr Soc. 2017 Jul 17;1(9):1120-1123. doi: 10.1210/js.2017-00160. eCollection 2017 Sep 1.