PMID- 35264463 OWN - NLM STAT- Publisher LR - 20240220 IS - 2052-0573 (Print) IS - 2052-0573 (Electronic) IS - 2052-0573 (Linking) VI - 2022 DP - 2022 Mar 1 TI - Multiple electrolyte disturbances as the presenting feature of multiple endocrine neoplasia type 1 (MEN-1). LID - 21-0207 [pii] LID - 10.1530/EDM-21-0207 [doi] AB - SUMMARY: A 49-year-old teacher presented to his general physician with lethargy and lower limb weakness. He had noticed polydipsia, polyuria, and had experienced weight loss, albeit with an increase in central adiposity. He had no concomitant illnesses and took no regular medications. He had hypercalcaemia (adjusted calcium: 3.34 mmol/L) with hyperparathyroidism (parathyroid hormone: 356 ng/L) and hypokalaemia (K: 2.7 mmol/L) and was admitted for i.v. potassium replacement. A contrast-enhanced CT chest/abdomen/pelvis scan revealed a well-encapsulated anterior mediastinal mass measuring 17 x 11 cm with central necrosis, compressing rather than invading adjacent structures. A neck ultrasound revealed a 2 cm right inferior parathyroid lesion. On review of CT imaging, the adrenals appeared normal, but a pancreatic lesion was noted adjacent to the uncinate process. His serum cortisol was 2612 nmol/L, and adrenocorticotrophic hormone was elevated at 67 ng/L, followed by inadequate cortisol suppression to 575 nmol/L from an overnight dexamethasone suppression test. His pituitary MRI was normal, with unremarkable remaining anterior pituitary biochemistry. His admission was further complicated by increased urine output to 10 L/24 h and despite three precipitating factors for the development of diabetes insipidus including hypercalcaemia, hypokalaemia, and hypercortisolaemia, due to academic interest, a water deprivation test was conducted. An 18flurodeoxyglucose-PET (FDG-PET) scan demonstrated high avidity of the mediastinal mass with additionally active bilateral superior mediastinal nodes. The pancreatic lesion was not FDG avid. On 68Ga DOTATE-PET scan, the mediastinal mass was moderately avid, and the 32 mm pancreatic uncinate process mass showed significant uptake. Genetic testing confirmed multiple endocrine neoplasia type 1. LEARNING POINTS: In young patients presenting with primary hyperparathyroidism, clinicians should be alerted to the possibility of other underlying endocrinopathies. In patients with multiple endocrine neoplasia type 1 (MEN-1) and ectopic adrenocorticotrophic hormone syndrome (EAS), clinicians should be alerted to the possibility of this originating from a neoplasm above or below the diaphragm. Although relatively rare compared with sporadic cases, thymic carcinoids secondary to MEN-1 may also be associated with EAS. Electrolyte derangement, in particular hypokalaemia and hypercalcaemia, can precipitate mild nephrogenic diabetes insipidus. FAU - Li, Adrian Po Zhu AU - Li APZ AD - Department of Endocrinology ASO/EASO COM, King 's College Hospital NHS Foundation Trust, Denmark Hill, London, UK. FAU - Sathyanarayan, Sheela AU - Sathyanarayan S AD - Department of Endocrinology ASO/EASO COM, King 's College Hospital NHS Foundation Trust, Denmark Hill, London, UK. FAU - Diaz-Cano, Salvador AU - Diaz-Cano S AD - Departments of Cellular Pathology and Molecular Pathology, Queen Elizabeth Hospital, Birmingham, UK. AD - Division of Cancer Studies, King's College London, London, UK. FAU - Arshad, Sobia AU - Arshad S AD - Department of Endocrinology ASO/EASO COM, King 's College Hospital NHS Foundation Trust, Denmark Hill, London, UK. FAU - Drakou, Eftychia E AU - Drakou EE AD - Department of Clinical Oncology, Guy's Cancer Centre - Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, UK. FAU - Vincent, Royce P AU - Vincent RP AD - Department of Clinical Biochemistry, King's College Hospital NHS Foundation Trust, Denmark Hill, London, UK. AD - Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, UK. FAU - Grossman, Ashley B AU - Grossman AB AD - Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK. AD - Barts and the London School of Medicine, Centre for Endocrinology, William Harvey Institute, London, UK. AD - Neuroendocrine Tumour Unit, Royal Free Hospital, London, UK. FAU - Aylwin, Simon J B AU - Aylwin SJB AD - Department of Endocrinology ASO/EASO COM, King 's College Hospital NHS Foundation Trust, Denmark Hill, London, UK. FAU - Dimitriadis, Georgios K AU - Dimitriadis GK AUID- ORCID: 0000-0002-6662-804X AD - Department of Endocrinology ASO/EASO COM, King 's College Hospital NHS Foundation Trust, Denmark Hill, London, UK. AD - Obesity, Type 2 Diabetes and Immunometabolism Research Group, Department of Diabetes, Faculty of Life Sciences, School of Life Course Sciences, King's College London, London, UK. AD - Division of Reproductive Health, Warwick Medical School, University of Warwick, Coventry, UK. LA - eng PT - Journal Article DEP - 20220301 PL - England TA - Endocrinol Diabetes Metab Case Rep JT - Endocrinology, diabetes & metabolism case reports JID - 101618943 PMC - PMC8942316 EDAT- 2022/03/11 06:00 MHDA- 2022/03/11 06:00 PMCR- 2022/02/04 CRDT- 2022/03/10 05:41 PHST- 2022/02/01 00:00 [received] PHST- 2022/02/04 00:00 [accepted] PHST- 2022/03/11 06:00 [pubmed] PHST- 2022/03/11 06:00 [medline] PHST- 2022/03/10 05:41 [entrez] PHST- 2022/02/04 00:00 [pmc-release] AID - 21-0207 [pii] AID - EDM210207 [pii] AID - 10.1530/EDM-21-0207 [doi] PST - aheadofprint SO - Endocrinol Diabetes Metab Case Rep. 2022 Mar 1;2022:21-0207. doi: 10.1530/EDM-21-0207.