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Molecular and Clinical Spectrum of Primary Hyperparathyroidism by Smita Jha; William F Simonds is a Medicine article available to read on EtoBox.

What is Molecular and Clinical Spectrum of Primary Hyperparathyroidism about?

Abstract Recent data suggest an increase in the overall incidence of parathyroid disorders with primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder. PHPT is associated with morbidities (fractures, kidney stones, chronic kidney disease) and increased risk of death. The symptoms of PHPT can be non-specific, potentially delaying the diagnosis. Approximately 15% of patients with PHPT have an underlying heritable form of PHPT which may be associated with extra-parathyroidal manifestations, requiring active surveillance for these manifestations as seen in multiple endocrine neoplasia type 1 and 2A. Genetic testing for heritable forms should be offered to patients with multi-glandular disease, recurrent PHPT, young onset PHPT (age ≤ 40 years) and those with a family history of parathyroid tumors. However, the underlying genetic cause of majority of patients with heritable forms of PHPT remains unknown. Distinction between sporadic and heritable forms of PHPT is useful in surgical planning for parathyroidectomy and has implications for family. The genes currently known to be associated with heritable forms of PHPT account for approximately half of the sporadic

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Author

Smita Jha; William F Simonds

Publisher

The Endocrine Society

Published

2023

Language

EN

Field

Medicine (Health Sciences)