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

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

doi:10.1515/jpem-2025-0367

Article

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

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

Published/Copyright: August 25, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 12

Abstract

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 presentation

A 10-year-10-month-old female presented with fatigue, leg pain, and a pathological fracture in her left forearm. Laboratory tests revealed hypercalcemia, hypophosphatemic hypercalcemia, and hyperparathyroidism. Imaging studies identified a 17 mm hypervascular hypoechoic lesion in the left paratracheal area. Surgical intervention included left inferior and superior parathyroidectomy and left thyroidectomy. Histopathology showed atypical parathyroid neoplasia and thyroid hyperplasia. Genetic testing revealed a pathogenic CDC73 mutation (p.E48*, c.142G>T). The patient is under regular follow-up for hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinoma.

Conclusions

This case highlights the importance of early genetic testing in pediatric primary hyperparathyroidism (PHP), particularly for detecting CDC73 gene mutations associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). Early diagnosis allows for timely intervention, surgical planning, and long-term surveillance to manage potential complications such as parathyroid carcinoma and ossifying fibromas.

Keywords: CDC73 gene mutation; hyperparathyroidism-jaw tumor syndrome; parathyroid carcinoma; pathological fracture in children; pediatric primary hyperparathyroidism

Corresponding author: Emel Hatun Aytaç Kaplan, Department of Pediatric Endocrinology, Basaksehir Cam ve Sakura City Hospital, İstanbul, Türkiye, E-mail: emel_ctf@hotmail.com

Research ethics: Not applicable.
Informed consent: Informed consent for the publication of this case report, including the use of clinical details and images, was obtained from the patient’s family.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2025-06-29

Accepted: 2025-08-15

Published Online: 2025-08-25

Published in Print: 2025-12-17

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Articles in the same Issue

https://doi.org/10.1515/jpem-2025-0367

Keywords for this article

CDC73 gene mutation; hyperparathyroidism-jaw tumor syndrome; parathyroid carcinoma; pathological fracture in children; pediatric primary hyperparathyroidism