Аннотация:Background:Various known polymorphisms are describedin MENIN gen.Methods:In this case report a novel MEN1 polymorphismis described.Results: A female developed nephrolithiasis with frequentrenal colic requiring a lithotripsy at the age of 22. A low-trauma fracture of the left malleolar occurred at 23. At 24 biochemi-cal testing revealed: PTH 47 pmol/l (1,45–10,41), total calcium2,9 mmol/L (2,1–2,55), ionized calcium 1,48 mmol/l (1,03–1,29), thus establishing a diagnosis of primary hyperparathy-roidism. Parathyroid ultrasonography: a hypoechoic lesionnear the lower pole of the left thyroid lobe 1,7 × 0,8 × 0,6 cm.99 mTc sestamibi scintigraphy demonstrated increased uptakeat the same position. Hormonal evaluation: PRL 558,4 mIU/L(90–540), bioactivePRL 334,8 mIU/L (64–395), IGF-1 433,7 ng/mL (150–400), GH 12,6 ng/ml (0,06–6,88), 8:00ACTH 24,56 pg/ml (7–66), 8:00cortisol 432,3 nmol/L (123–626), insulin 9,67 μU/mL (2,3–26,4). Head MRI with contrast revealed no data forthe presence of pituitary adenoma. The patient was surgicallytreated with upper left parathyroidectomy and the removal oflower left parathyroid hyperplasia. PTH decreased intraopera-tively to 43 ng/mL with postoperative hypocalcemia.Conclusions: Genetic testing revealed a heterozygous sub-stitution in the MEN1 gene p.R176Q, which is a rare polymor-phism (rs607969) occurring in 1,6 % of population and was notpreviously described in MEN1 patients. Considering that thepatients’ father also has nephrolithiasis, further evaluation andfollow-up is needed to confirm pathological significance of therevealed polymorphism.
