Hereditary syndromal and nonsyndromal forms of primary hyperparathyroidism

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Primary hyperparathyroidism is a common disorder of mineral homeostasis, characterized by overproduction of parathyroid hormone and upper normal or elevated calcium levels due to hyperplasia or a tumor of parathyroid gland. 90−95% of cases of primary hyperparathyroidism are sporadic, while hereditary genetic forms occur in 5–10% of all cases. Primary hyperparathyroidism as the component of hereditary syndromes can present in various clinical forms (asymptomatic, symptomatic), can be associated with other endocrine or non-endocrine diseases, and require special approaches to treatment. Given that primary hyperparathyroidism is one of the most common components of these syndromes, it can be used as an important diagnostic tool in identifying affected families. This review is devoted to modern ideas about the clinical course and genetic characteristics of hereditary variants of primary hyperparathyroidism and the diagnostic and treatment algorithms recommended today. The review considers primary hyperparathyroidism as a component of hereditary syndromes including multiple endocrine neoplasias types 1, 2A and 4 and syndrome of hyperparathyroidism with a jaw tumor. Also non-syndromic hereditary forms are descripted, such as familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia, and severe neonatal primary hyperparathyroidism.

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About the authors

Anna M. Gorbacheva

Endocrinology Research Centre

Author for correspondence.
ORCID iD: 0000-0003-2669-9457
SPIN-code: 9815-7509
Scopus Author ID: 57190977461
ResearcherId: F-2798-2018

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Anna K. Eremkina

Endocrinology Research Centre

ORCID iD: 0000-0001-6667-062X
SPIN-code: 8848-2660

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Natalya G. Mokrysheva

Endocrinology research centre

ORCID iD: 0000-0002-9717-9742
SPIN-code: 5624-3875

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD, Professor


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