Primary hyperparathyroidism due to oxyphilic cell adenoma in a young patient with thrombopathy: case presentation
Keywords:
Primary hyperparathyroidism; Oxyphilic cell adenoma; Pathological fracture; Thrombopathy; ParathyroidectomyAbstract
Introduction: Primary hyperparathyroidism (PHPT) is common in postmenopausal women but exceptional in the second decade of life. Presentation with pathological fracture and coexistence with congenital thrombopathy are scarcely documented.
Objective: To describe an atypical case of PHPT due to oxyphilic cell adenoma in an 18-year-old patient with congenital thrombopathy, presenting with pathological fracture, highlighting the lessons learned in diagnosis and surgical management.
Case presentation: An 18-year-old female patient with congenital thrombopathy presented with bone pain, polydipsia, polyuria, and pathological ulnar fracture. Hypercalcemia (3.04 mmol/L), hypophosphatemia (0.72 mmol/L), elevated PTH (156.5 pg/mL), and a palpable cervical mass were found. Sestamibi scintigraphy showed a left parathyroid adenoma. Minimally invasive parathyroidectomy was performed, removing an oxyphilic cell adenoma. The postoperative course was uneventful, with normalization of calcium and PTH within 24 hours. At 6 months, the fracture had healed, and the patient remained asymptomatic.
Conclusions: PHPT due to oxyphilic adenoma can exceptionally present in young individuals and debut with pathological fracture. Congenital thrombopathy does not contraindicate surgery if planned multidisciplinary. This case underscores the importance of serum calcium testing in low-impact fractures in young adults.
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Copyright (c) 2026 Alejandro Román-Rodríguez , Rosymar Silva-Lago, Yanier Espinosa-Goire
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