Unusual presentation of primary hyperparathyroidism in a young adult: Multimodal diagnosis and surgical resolution

Abstract

Introduction

Primary hyperparathyroidism (PHPT) is an uncommon endocrine disorder in young adults and is frequently underdiagnosed in resource-limited settings due to the lack of routine biochemical screening. This report highlights the diagnostic and therapeutic complexities associated with PHPT presenting with advanced skeletal manifestations.

Case presentations

A 23-year-old male presented with an atraumatic humeral fracture, significant weight loss, and diffuse musculoskeletal pain. Laboratory investigations revealed markedly elevated serum intact parathyroid hormone (iPTH) levels (740 pg/mL). Multimodal imaging—including cervical ultrasonography, technetium-99 m sestamibi scintigraphy, and whole-body bone scintigraphy—identified a parathyroid adenoma and extensive skeletal involvement. Histopathological analysis confirmed the presence of a parathyroid adenoma and associated brown tumor. The patient underwent successful parathyroidectomy and orthopedic stabilization, followed by structured postoperative monitoring. Clinical symptoms resolved rapidly, and biochemical remission was achieved, with iPTH levels normalizing to 14.2 pg/mL.

Discussion

This case underscores the importance of considering PHPT in the differential diagnosis of unexplained skeletal symptoms in young adults. Despite the constraints of a resource-limited healthcare environment, a multidisciplinary approach facilitated accurate diagnosis and effective management. The presence of brown tumors and pathological fractures reflects the severity of delayed recognition and highlights the need for improved diagnostic infrastructure.

Conclusion

Timely identification and coordinated care are critical to optimizing outcomes in PHPT, particularly in low-resource settings. Enhanced clinical awareness and context-sensitive diagnostic strategies are essential to reduce morbidity and facilitate recovery.