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Multiple electrolyte disturbances as the presenting feature of Multiple Endocrine Neoplasia Type 1 (MEN-1)
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Po Zhu Li, Adrian, Sathyanarayan, Sheela, Diaz-Cano, Salvador, Arshad, Sobia, Drakou, Eftychia E., Vincent, Royce P., Grossman, Ashley B., Aylwin, Simon J. B. and Dimitriadis, Georgios K. (2022) Multiple electrolyte disturbances as the presenting feature of Multiple Endocrine Neoplasia Type 1 (MEN-1). Endocrinology, Diabetes & Metabolism Case Reports, 2022 (1). 21-0207. doi:10.1530/EDM-21-0207 ISSN 2052-0573.
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Official URL: https://doi.org/10.1530/EDM-21-0207
Abstract
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 × 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.
| Item Type: | Journal Article | |||||||||
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| Subjects: | R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) | |||||||||
| Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School | |||||||||
| Library of Congress Subject Headings (LCSH): | Endocrine glands -- Diseases -- Diagnosis, Hyperparathyroidism -- Diagnosis, Hypercalcemia -- Diagnosis, Parathyroid glands -- Tumors, Pituitary gland -- Tumors, Islands of Langerhans -- Tumors | |||||||||
| Journal or Publication Title: | Endocrinology, Diabetes & Metabolism Case Reports | |||||||||
| Publisher: | BioScientifica | |||||||||
| ISSN: | 2052-0573 | |||||||||
| Official Date: | 10 March 2022 | |||||||||
| Dates: |
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| Volume: | 2022 | |||||||||
| Number: | 1 | |||||||||
| Article Number: | 21-0207 | |||||||||
| DOI: | 10.1530/EDM-21-0207 | |||||||||
| Status: | Peer Reviewed | |||||||||
| Publication Status: | Published | |||||||||
| Access rights to Published version: | Open Access (Creative Commons) | |||||||||
| Copyright Holders: | © The authors 2022 | |||||||||
| Date of first compliant deposit: | 2 February 2022 | |||||||||
| Date of first compliant Open Access: | 13 April 2022 | |||||||||
| RIOXX Funder/Project Grant: |
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