Primary Hyperparathyroidism-Jaw Tumor Syndrome Associated with CDC73 Gene Mutation: A Case Report

Ibarcena-Llerena C.V.; Calderon-Hernandez C.C.; Cahuapaza-Gutierrez N.L. · Clinical and Translational Metabolism (2025) · DOI: 10.1007/s12018-025-09312-y

Resumen

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant disorder associated with mutations in the CDC73 gene. It is characterized by primary hyperparathyroidism, mandibular bone tumors, and an increased risk of parathyroid carcinoma. We report the case of a 25-year-old woman with a progressive mass in the right maxillary region. Evaluation revealed bilateral mandibular bone lesions, hypercalcemia, elevated intact parathyroid hormone levels, and osteoporosis. Imaging showed an expansive lytic lesion in the right upper maxilla and uptake in the right parathyroid gland. She underwent parathyroidectomy; however, the disease recurred, and due to the bone findings, a genetic panel was performed, revealing a likely pathogenic variant in the CDC73 gene, confirming the diagnosis of HPT-JT syndrome. She underwent further surgical treatment with mandibular resection and reconstruction using a skin flap, achieving good clinical and functional outcomes. This case highlights the importance of considering hereditary syndromes such as HPT-JT in young patients with progressive masses and atypical maxillofacial bone lesions. Molecular studies are essential for confirming the diagnosis and guiding surgical, endocrine, and genetic management. © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2025.

Instituciones: Universidad Científica del Sur