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Article

Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases.

Journal of pediatric endocrinology & metabolism : JPEM - 16 Dec 2022

Blackburn James, Mulvey Ian, Nadar Ruchi, Dias Renuka P, Saraff Vrinda, Senniappan Senthil

Abstract excerpt

OBJECTIVES: Primary hyperparathyroidism (PHPT), whilst common in elderly populations, is rare in adolescents. Hereditary cases make up less than 10% of patients with PH. We report two patients with CDC73 mutation presenting in early adolescence. CASE PRESENTATION: Case 1: A 14-year-old patient was referred from an adolescent mental health unit with hypercalcaemia. Imaging revealed a parathyroid adenoma. Genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36177768
DOI: 10.1515/jpem-2022-0299

Provenance

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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