Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2025

Aytaç Kaplan Emel Hatun, Çakmak Mehmet, Yilmaz Özgüven M Banu, Tuna Şentürk Şeyma, Önal Hasan, Bozlak Serdar, Kocabey Sütçü Zümrüt

Abstract excerpt

OBJECTIVES: Parathyroid carcinoma is the rarest etiological cause of primary hyperparathyroidism and is exceedingly rare in the pediatric population. Clinical manifestations include severe hypercalcemia, pathological fractures, and bone pain. Diagnosis is typically established through surgical intervention and histopathological examination; however, genetic analyses can also support the diagnosis. CASE...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Hyperparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperparathyroidism, Primary

Share to Mutation

Share to Parathyroid Neoplasms

Share to Prognosis

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 40847549
DOI: 10.1515/jpem-2025-0367

Genes

CDC73

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.PMID 40847549Read ↗

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

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

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.Semantic proximity Read ↗

Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk.Semantic proximity Read ↗

A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to CDC73 Mutation.Semantic proximity Read ↗

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.Semantic proximity Read ↗

Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.Semantic proximity Read ↗

Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.Semantic proximity Read ↗

Primary hyperparathyroidism in Chinese children and adolescents: A single-centre experience at Peking Union Medical College Hospital.Semantic proximity Read ↗

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.Semantic proximity Read ↗

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrumSemantic proximity Read ↗

Parathyroid carcinoma during pregnancy: a novel pathogenic CDC73 mutation - a case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.