Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma
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Emel Hatun Aytaç Kaplan
,
Mehmet Çakmak
,
M. Banu Yilmaz Özgüven
,
Şeyma Tuna Şentürk
,
Hasan Önal
,
Serdar Bozlak
and
Zümrüt Kocabey Sütçü
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.
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Research ethics: Not applicable.
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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.
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Author contributions: EHAK, MC, BYÖ, ŞTŞ, HÖ, ZKS, SB.
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Use of Large Language Models, AI and Machine Learning Tools: None.
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Conflict of interest: The author states no conflict of interest. The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Research funding: None declared.
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Data availability: Not applicable.
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