Atypical Parathyroid Tumor and Hyperparathyroidism, and Their Association With the CDC73 Mutation in a Pediatric Patient.

Primary hyperparathyroidism (PHPT) is rare in the pediatric population and often presents with pronounced symptoms due to delayed recognition. Atypical parathyroid tumors, or neoplasms of uncertain malignant potential, are even less common in children and may indicate an underlying genetic disorder. This report discusses a 15-year-old female who presented with moderate hypercalcemia and was diagnosed with PHPT secondary to an atypical parathyroid tumor harboring a germline CDC73 mutation. She underwent bilateral inferior parathyroidectomy and left hemithyroidectomy. Histopathology confirmed an atypical parathyroid tumor. This case highlights the diagnostic challenges of distinguishing atypical parathyroid tumors from carcinomas, particularly in pediatric patients. This underscores the importance of genetic testing in young patients with PHPT and unusual histology.