From obstructive uropathy to syndromic suspicion: a case of multiglandular primary hyperparathyroidism and pancreatic nodule mimicking multiple endocrine neoplasia type 1

Abstract

Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disorder characterized by synchronous or metachronous tumor development within the parathyroid glands, enteropancreatic neuroendocrine framework, and anterior pituitary. A 48-year-old female presented with severe bilateral loin pain and anuria lasting 1 month. Comprehensive imaging revealed bilateral hydroureteronephrosis from staghorn and renal calculi requiring urgent bilateral double-J (DJ) stenting. Subsequent endocrine evaluations demonstrated hyperparathyroidism (PTH: 191.9 pg/ml). Targeted 99mTc-Sestamibi SPECT-CT and 68Ga-Trivehexin PET-CT localized multiple hyperfunctioning parathyroid adenomas. Systemic staging via MRCP identified an additional 1.7 cm cystic neuroendocrine tumor within the uncinate process of the pancreas, structurally mimicking a classic MEN-1 phenotypic cluster. The clinical constellation of multiglandular parathyroid adenomas/hyperplasia combined with a cystic neuroendocrine tumor of the pancreatic uncinate process presents a classic phenotypic presentation mimicking MEN-1 syndrome (Wermer's syndrome).While the pituitary MRI was completely unremarkable at this stage, the coexistence of primary hyperparathyroidism and a suspicious pNET strongly mandates long-term genetic screening (MEN-1 gene mutation analysis) and close clinical surveillance. The patient's acute obstructive uropathy has been successfully managed via bilateral DJ stenting, and metabolic control has been targeted via targeted parathyroidectomy.