PMID- 35448982 OWN - NLM STAT- MEDLINE DCOM- 20220425 LR - 20220716 IS - 1472-6823 (Electronic) IS - 1472-6823 (Linking) VI - 22 IP - 1 DP - 2022 Apr 21 TI - Long delay in diagnosis of a case with MEN1 due to concomitant presence of AIMAH with insulinoma: a case report and literature review. PG - 108 LID - 10.1186/s12902-022-01022-6 [doi] LID - 108 AB - BACKGROUND: ACTH-independent macronodular hyperplasia (AIMAH) is an uncommon disorder characterized by massive enlargement of both adrenal glands and hypersecretion of cortisol. Concomitant AIMAH and multiple endocrine neoplasia type1 (MEN1) is rare to our knowledge. CASE PRESENTATION: Herein, we describe a 32 year old woman with long history of prolactinoma and secondary ammonhrea presented with not-severe manifestation of hypoglycemia due to concomitant presence of insulinoma with AIMAH leading to 12 years delay of MEN1 diagnosis. Laboratory tests showed severe hypoglycemia associated with hyper insulinemia (non-fasting blood sugar = 43 mg/dl, insulin = 80.6 muIU /ml, C-peptide = 9.3 ng/ml) hyperparathyroidism (calcium = 10.3 mg/dl, phosphor = 3.1 mg/dl, PTH = 280 pg/ml) and chemical evidence of an ACTH-independent hypercortisolism (serum cortisol value of 3.5, after 1 mg dexamethasone suppression test serum ACTH value of 17 pg/ml, and high urinary cortisol level). Abdominal CT scan demonstrated two enhancing well-defined masses 27*20 mm and 37*30 mm in the tail and body of the pancreas, respectively, and a 36*15 mm mass in left adrenal gland (seven Hounsfield units). Dynamic pituitary MRI revealed a partial empty sella. The physical examination of the patient was unremarkable. Distal pancreatectomy and a left adrenalectomy were performed. After the surgery, we observed clinical and biochemical remission of hyper insulinemia and gradual decrease in urinary cortisol. The histological features of the removed left adrenal gland were consistent with AIMAH. Histological examination of the pancreatic lesions revealed well differentiated neuroendocrine tumors. Genetic abnormalities in the MEN1, heterozygote for pathogenic variant chr11; 645,773,330-64577333AGAC, c.249-252delGTCT, p. (11e85Serfs Ter33) in exon 2 were found. It was recommended the patient undergoes parathyroidectomy as soon as possible. CONCLUSION: Given the history and presentation of our case, we recommend that the clinicians consider the possibility of autonomous cortisol production in MEN1 patients who do not show severe symptoms of hypoglycemia in the presence of insulinoma. CI - (c) 2022. The Author(s). FAU - Chavoshi, Vajihe AU - Chavoshi V AD - Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, No. 24, Parvaneh Street, Velenjak, Tehran, Iran. FAU - Tamehri Zadeh, Seyed Saeed AU - Tamehri Zadeh SS AD - Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, No. 24, Parvaneh Street, Velenjak, Tehran, Iran. FAU - Khalili, Shayesteh AU - Khalili S AD - Department of Internal Medicine, School of Medicine, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Rabbani, Amirhassan AU - Rabbani A AD - Department of Transplant & Hepatobiliary Surgery, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Matini, Seyed Amir Hassan AU - Matini SAH AD - 4Department of Pathology, Kashan University of Medical Sciences, Kashan, Iran. FAU - Mohsenifar, Zhaleh AU - Mohsenifar Z AD - Taleghani General Hospital, SBMU, Tehran, Iran. FAU - Hadaegh, Farzad AU - Hadaegh F AUID- ORCID: 0000-0002-8935-2744 AD - Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, No. 24, Parvaneh Street, Velenjak, Tehran, Iran. fzhadaegh@endocrine.ac.ir. LA - eng PT - Case Reports PT - Journal Article PT - Review DEP - 20220421 PL - England TA - BMC Endocr Disord JT - BMC endocrine disorders JID - 101088676 RN - 9002-60-2 (Adrenocorticotropic Hormone) RN - WI4X0X7BPJ (Hydrocortisone) RN - Acth-Independent Macronodular Adrenal Hyperplasia SB - IM MH - Adrenal Glands/pathology MH - Adrenocorticotropic Hormone MH - Adult MH - Cushing Syndrome MH - Female MH - Humans MH - Hydrocortisone MH - Hyperplasia/pathology MH - *Hypoglycemia/diagnosis/etiology/pathology MH - *Insulinoma/complications/diagnosis/surgery MH - *Multiple Endocrine Neoplasia/pathology MH - *Pancreatic Neoplasms/complications/diagnosis/surgery MH - *Pituitary Neoplasms/complications/diagnosis/surgery PMC - PMC9022315 OTO - NOTNLM OT - AIMAH OT - Case report OT - Genetic mutation OT - Insulinoma OT - MEN-1 COIS- The authors declare that they have no competing interests. EDAT- 2022/04/23 06:00 MHDA- 2022/04/26 06:00 PMCR- 2022/04/21 CRDT- 2022/04/22 05:05 PHST- 2021/05/13 00:00 [received] PHST- 2022/04/12 00:00 [accepted] PHST- 2022/04/22 05:05 [entrez] PHST- 2022/04/23 06:00 [pubmed] PHST- 2022/04/26 06:00 [medline] PHST- 2022/04/21 00:00 [pmc-release] AID - 10.1186/s12902-022-01022-6 [pii] AID - 1022 [pii] AID - 10.1186/s12902-022-01022-6 [doi] PST - epublish SO - BMC Endocr Disord. 2022 Apr 21;22(1):108. doi: 10.1186/s12902-022-01022-6.