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Article

Molecular basis of symptomatic sporadic primary hyperparathyroidism: New frontiers in pathogenesis.

Best practice & research. Clinical endocrinology & metabolism - 1 Mar 2025

Arya Ashutosh Kumar, Kumari Poonam, Singh Priyanka, Bhadada Sanjay Kumar

Abstract excerpt

Primary hyperparathyroidism is a common endocrine disorder characterized by inappropriate elevation of parathyroid hormone and hypercalcemia. While predominantly an asymptomatic disease in Western populations, symptomatic presentations are more prevalent in Eastern countries. The molecular pathogenesis of sporadic PHPT primarily involves genetic and epigenetic alterations leading to abnormal parathyroid cell...

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Identifiers

PMID: 40057423
DOI: 10.1016/j.beem.2025.101985

Genes

MEN1
CDC73
CDKN2A
CDKN2B
GATA3
GCM2
MTOR
NF1
PAX1
PC
PIK3CA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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