New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters. Abstract #2176

Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.
Aim(s): Identified a new mutation.
Materials and methods: We report a case of 36, 35 and 31-year-old sisters with clinically aggressive PHPT. Laboratory test results: serum total Ca- 3,03 mmol/l (2,10- 2,55), 3,0 mmol/l and 3,12 mmol/l; PTH 1147 pg/ml (15-65), 489,9 pg/ml and 323 pg/ml respectively. The US exam showed tumors of 4 parathyroid glands in all cases. They were confirmed by a CT-scan and a 99mTc-Sestamibi scintigraphy. All sisters have a severe osteoporosis and two sisters have urolithiasis.
Conference: 15th Annual ENETS conference (2018)
Category: Case reports
Presenting Author: Julia Krupinova

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