Hyperparathyroidism of different genesis in young patients with Turner syndrome: case series and brief review

• Published in: Problemy ėndokrinologii Vol. 70; no. 1; pp. 56 - 65
• Main Authors: Ozhimalov, I. D., Karavaynaya, T. K., Fedorova, Ju. D., Gorbacheva, A. M., Bibik, E. E., Maganeva, I. S., Eremkina, A. К., Mokrysheva, N. G.
• Format: Journal Article
• Language: English; Russian
• Published: 28.02.2024
• ISSN: 0375-9660; 2308-1430
• DOI: 10.14341/probl13330

Hyperparathyroidism is a syndrome characterized by an excessive secretion of parathyroid hormone. Etiologically, hyperparathyroidism is subdivided into primary hyperparathyroidism, which develops as a result of parathyroid adenoma, carcinoma or hyperplasia, and secondary hyperparathyroidism, which happens as a compensatory response to a hypocalcemia caused by condition outside the parathyroid glands. Turner syndrome may also be accompanied by mineral metabolism disorders of various etiology. An association of hyperparathyroidism and Turner syndrome is interesting because of multifactorial impact on bone mineral density, but only few cases of such coexistence have been previously described in the literature. This article describes two patients with Turner syndrome and hyperparathyroidism of different etiology. Hyperparathyroidism, normocalcemia, vitamin D deficiency, osteoporosis, parathyroid tumors were found in both cases. In one case a number of assays was performed to confirm the patient’s normocalcemic primary hyperparathyroidism, and surgery was performed to achieve remission. In the second case, treatment of vitamin D deficiency resulted in normalization of serum concentration of parathormone, after which the patient was prescribed antiresorptive therapy. The pathogenetic association between Turner syndrome and hyperparathyroidism requires further investigation. Comprehensive approach to the diagnosis and treatment of mineral metabolism disorders are essential for patients with coexistence of these two diseases.