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Article

A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome.

Frontiers in endocrinology - 1 Jan 2024

Gu Yian, Ye Yuanyuan, Shu Hua, Chang Lina, Xie Yinghui, Li Fengao, Zhu Tiehong, Liu Ming, He Qing

Abstract excerpt

Background: Hereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms. Case summary: The proband, diagnosed with PHPT, underwent parathyroidectomy...

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Identifiers

PMID: 38348418
DOI: 10.3389/fendo.2024.1330185
PMCID: PMC10859429

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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