Primary hyperparathyroidism is rare in children and adolescents. The typical biochemical features are hypercalcemia and hypophosphatemia, but the symptoms are vague and non-specific. This case illustrates a rare presentation of primary hyperparathyroidism, along with its clinical approach and follow-up. A 16-year-old male adolescent presented to the emergency department with abdominal pain and vomiting. Laboratory tests showed elevated amylase and hypercalcemia. The diagnosis of pancreatitis due to hypercalcemia was admitted. The subsequent study revealed an increase in parathormone, with normal 25-OH-vitamin D. Thyroid and parathyroid ultrasound showed a left parathyroid adenoma. The patient underwent surgical removal of the affected gland and its anatomopathological examination confirmed the parathyroid adenoma. A genetic analysis to diagnose its etiology was performed, allowing to exclude MEN and ended to reveal a CDC73 founder variant, a pathogenic mutation associated with hyperparathyroidism-jaw tumor syndrome. Further study was indicated and included renal ultrasound, orthopantomography, and limbs radiograph. Genetic counseling for the family was also advised. In conclusion, primary hyperparathyroidism is rare in children, with pancreatitis as an uncommon presentation, warranting genetic analysis to evaluate comorbidity risks and hereditary transmission.
Cite this paper
Andrade, B. , Bernardo, M. , águas, B. and Sampaio, M. D. L. (2025). Primary Hyperparathyroidism: A Rare Presentation and Etiology. Open Access Library Journal, 12, e14089. doi: http://dx.doi.org/10.4236/oalib.1114089.
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