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J Endocr Soc. 2019 Sep 16;3(12):2224-2235. doi: 10.1210/js.2019-00081. eCollection 2019 Dec 1.

Pediatric Parathyroid Carcinoma: A Case Report and Review of the Literature.

Author information

1
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
2
Department of Translational and Regenerative Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
3
Department of General Surgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
4
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
5
Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, United Kingdom.
6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.

Abstract

Primary hyperparathyroidism (PHPT) is a rare endocrine disease in the pediatric population. Sporadic parathyroid adenomas remain the most common cause of pediatric PHPT. Parathyroid carcinoma (PC) is an extremely rare cause of pediatric PHPT. We report a 16-year-old boy presenting with a nonhealing fragility fracture of the right leg along with florid features of rickets. Examination revealed a neck mass, mimicking a goiter. Biochemical findings were consistent with PHPT. Imaging was suggestive of a right inferior parathyroid mass infiltrating the right lobe of thyroid. The patient underwent en bloc surgical excision of the parathyroid mass along with the right lobe of thyroid. Histopathology was suggestive of a PC. He achieved biochemical remission with normalization of serum calcium and parathyroid hormone levels. At follow-up, there was no biochemical or imaging evidence of recurrence or metastasis. Genetic analysis revealed heterozygous germline deletion of CDC73. An extensive literature search on PC was conducted, with an emphasis on the pediatric population. Thirteen cases of pediatric PC were identified. The median age of presentation was 13 years; there was no sex predilection. All cases were symptomatic; 31% had a visible neck mass. The median serum calcium and intact parathyroid hormone levels were 14.3 mg/dL and 2000 pg/mL, respectively. All patients underwent surgical excision, with 27% showing metastatic relapse. Our findings indicate that the preoperative features that could point toward a diagnosis of PC in a child with PHPT are a tumor size of >3 cm, thyroid infiltration on imaging, and severe hypercalcemia at presentation.

KEYWORDS:

hyperparathyroidism-jaw tumor syndrome; pediatric parathyroid carcinoma; primary hyperparathyroidism; rickets

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