Pediatric primary hyperparathyroidism; historical milestones, evolving diagnosis, and future directions

Abstract

Primary hyperparathyroidism (PHPT) in children, once regarded as exceedingly rare, is increasingly recognized following the introduction of sensitive parathyroid hormone (PTH) assays since the mid-1980s. This uncommon endocrine disorder, defined by autonomous PTH secretion and hypercalcemia, may manifest with bone pain, nephrolithiasis, or pathologic fractures, though asymptomatic hypercalcemia is also observed. Early cases accentuated on the importance of routine calcium screening to prevent under-diagnosis in pediatric populations. Advances in molecular genetics have elucidated heritable syndromes and mutations, such as CDC73, contributing to parathyroid neoplasia and hyperplasia, thereby refining risk stratification and management. Imaging plays a pivotal role in localizing abnormal glands, with ultrasound and parathyroid scintigraphy as first-line modalities; since, multiphase CT and MRI serve as adjuncts, though pediatric protocols must minimize radiation exposure. Emerging research explores normocalcemic PHPT variants and novel imaging techniques like PET/CT to enhance preoperative localization. Whilst understanding of the genetic architecture of PHPT evolves, future pediatric-focused studies aim to integrate molecular diagnostics with refined imaging strategies to optimize early detection, surgical planning, and long-term outcomes in affected children. Continued emphasis on genotype–phenotype correlations and low-radiation diagnostic protocols will be indispensable to improving care for these patients.

Keywords: Primary hyperparathyroidism, Children, Hypercalcemia, Bone pain, Urolithiasis, Nephrolithiasis, Parathyroidectomy