Endocrine Abstracts

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary condition that most often manifests with primary hyperparathyroidism followed by other syndromes, but there are other variations in the clinical presentation, which can increase the risk of medical error and worsen prognosis. A 32-year-old woman presents with complaints of low glucose levels, hunger, weakness, sleep disturbances, which are stopped by taking sweets. At the age of 16, a pituitary macroadenoma, prolactinoma resistant to the treatment was diagnosed (4 years of treatment with bromocriptine, transnasal adenomectomy, followed by 10 mg per week cabergoline didn’t achieve normoprolactinemia (prolactin increased to 18, 000 mIU/ml). Normoprolactinemia was achieved after repeated surgery at the age of 30). At the age of 28, primary hyperparathyroidism was diagnosed. Ultrasound of the thyroid gland revealed multiple formations of the parathyroid glands. So, a clinical diagnosis of MEN1 was made. Total resection of 4 parathyroid glands was performed with autotransplantation of the least altered gland into the muscle of the left forearm. Postoperatively, hypocalcemia with severe convulsive syndrome occurred, which required intravenous calcium gluconate, after which it was transferred to calcium tablets and active metabolites of vitamin D. Genetic verification of MEN1 syndrome was carried out (R415X gene mutation). A year later, the patient’s sister was diagnosed with hyperparathyroidism, genetic study revealed the same mutation. Subsequently, the formation of the adrenal glands (hormone-inactive) and the pancreas were detected. As part of this hospitalization, a fasting test was carried out (completed after 9 hours due to the development of hypoglycemic syndrome, at the end of the test C-peptide, insulin was within normal limits, proinsulin was significantly increased (29 mmol/L (0.7-4.3). According to the results of instrumental research methods, two formations were identified in the head and tail of the pancreas (0.8 and 2.5 cm). After selective blood sampling from the veins of the portal system, an organ-saving operation was performed. With further observation C-peptide, insulin, cortisol, parathyroid hormone remain within the normal range, but proinsulin remains elevated (up to 6-7.8 pmol/l). Given the presence of formations in both adrenal glands, in the head of the pancreas, it is not excluded that they acquire hormonal activity in the future, and therefore the patient will be screened. A detailed description of cases, especially with a non-classical course, can improve the preventive and therapeutic-diagnostic approach, which will have a beneficial effect on the quality of life and prognosis for such patients.