Multiple endocrine neoplasia in clinical practice. Diagnosis of primary hyperparathyroidism using the example of a clinical case
AbstractHereditary syndromes in endocrinology is a topic that does not lose its relevance because it isn't always possible to diagnose these syndromes in time, this affects the quality and efficacy of the treatment.
Besides, differential diagnosis has some difficulties especially in case of late-onset clinical manifestations.
This article presents an overview of the most common endocrinology hereditary syndromes with damage in two or more organs. The focus of attention is concentrated on the diagnosis of hereditary forms of endocrine neoplasia, a frequent component of which is primary hyperparathyroidism.
Hereditary forms of primary hyperparathyroidism are rarity. They are often forgotten, that can lead on wrong clinical tactics. A clinical case of primary hyperparathyroidism in the context of such a hereditary form as multiple endocrine neoplasia type 1 syndrome is presented in order to better understand the importance of accurate differential diagnosis.
Keywords:multiple endocrine neoplasia, multiple endocrine neoplasia type 1 syndrome, primary hyperparathyroidism, clinical case, differential diagnosis, genetic diagnosis
Funding. The study had no sponsor support.
Conflict of interest. The authors declare no conflict of interest.
For citation: Neudakhina V.O., Chernikova N.A., Stashevskaya V.N. Multiple endocrine neoplasia in clinical practice. Diagnosis of primary hyperparathyroidism using the example of a clinical case. Endokrinologiya: novosti, mneniya, obuchenie [Endocrinology: News, Opinions, Training]. 2021; 10 (4): 87-91. DOI: https://doi.org/10.33029/2304-9529-2021-10-4-87-91 (in Russian)
REFERENCES
1. Pinsky S.B., Beloborodov V.A. The syndrome of multiple endocrine neoplasias of the 1 type. Sibirskiy meditsinskiy zhurnal [Siberian Medical Journal]. 2012; (1): 124–7. (in Russian)
2. Mamedova E.O., Pigarova E.A., Mokrysheva N.G., Kuznetsov S.N., Kim I.V., Kuznetsov N.S., et al. Type 1 multiple endocrine neoplasia syndrome and familial isolated hyperparathyroidism. Klinicheskaya meditsina [Clinical Medicine]. 2015; (11): 73–7. (in Russian)
3. Matveeva Z.S., Romanchishen A.F., Gostimsky A.V., Vabalayte K.V. Prophylactic thyroidectomy as method of medullary thyroid carcinoma prevention in children from MEN syndrom families. Pediatriya [Pediatrician]. 2017; (5): 5–11. (in Russian)
4. Endocrinology: National guidelines. In: I.I. Dedov, G.A. Mel’nichenko (eds). 2nd ed. revised and additional. Moscow: GEOTAR-Media, 2016: 719–23. (in Russian)
5. Pellegata N.S., Quintanilla-Martinez L., Siggelkow H., et al. Germline mutations in p27(Kip1. cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA. 2006; 103 (42): 15 558-63.
6. Mamedova E.O., Mokrysheva N.G., Rozhinskaya L.Y. Hereditary forms of primary hyperparathyroidism. Osteoporoz i osteopatii [Osteoporosis and Osteopathy]. 2018; 21 (2): 23-9. (in Russian)
7. Jackson C.E., Norum R.A., Boyd S.B., et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 1990; 108: 1006-12.
8. Jackson M.A., Rich T.A., Hu M.I., Perrier N., Waguespack S.G. CDC 73-Related Disorders. In: R.A. Pago, M.P. Adam, H.H. Ardinfer, S.E. Wallace, A. Amemiya, L.J.H. Bean, et al. (eds). GeneReviews [Electronic resource]. Seattle, WA: University of Washington, 1993-2015. URL: http://www.ncbi.nlm.nih.gov/books/NBK3789/
9. lacobone M., Carnaille B., Palazzo F.F., Vriens M. Hereditary hyperparathyroidism - a consensus report of the European Society of Endocrine Surgeons (ESES). Langenbecks Arch Surg. 2015; 400 (8): 867-86.