Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review

TL;DR

This review discusses the diagnosis and surgical treatment of primary hyperparathyroidism in children, emphasizing the challenges and outcomes of managing this rare condition.

Contribution

The paper provides a structured diagnostic and therapeutic pathway for pediatric PHPT, integrating biochemical, imaging, and surgical approaches.

Findings

Pediatric PHPT is often symptomatic at diagnosis, unlike the typically asymptomatic adult form.

Sporadic PHPT is the most common cause in children, usually due to a single parathyroid adenoma.

Genetic forms of PHPT are associated with earlier onset and higher recurrence risks.

Abstract

Primary hyperparathyroidism (PHPT) in the pediatric population is a rare but clinically important endocrine disorder that poses significant diagnostic and therapeutic challenges. In contrast to adult PHPT, which is often detected incidentally, pediatric patients are frequently symptomatic at diagnosis, with manifestations reflecting prolonged exposure to hypercalcemia and elevated parathyroid hormone levels. Neonatal forms, particularly neonatal severe hyperparathyroidism, represent life-threatening conditions requiring prompt biochemical recognition and urgent intervention. The heterogeneity of clinical presentation and the rarity of the disease contribute to delayed diagnosis and increased risk of end-organ complications. Although hereditary syndromes are proportionally more frequent in children than in adults, sporadic PHPT remains the most common etiology in pediatric patients and is typically caused by a single parathyroid adenoma. Genetically determined forms, including multiple endocrine neoplasia syndromes, hyperparathyroidism–jaw tumor syndrome, and calcium-sensing receptor-related disorders, are often associated with multiglandular disease, earlier onset, and a higher risk of persistence or recurrence. Biochemical confirmation remains the cornerstone of PHPT diagnosis, while diagnostic imaging plays an important role in preoperative localization and surgical planning. High-resolution cervical ultrasound is the preferred first-line imaging modality in pediatric patients due to its excellent diagnostic performance and absence of ionizing radiation. Functional and advanced cross-sectional imaging techniques should be applied in a stepwise manner in selected cases with inconclusive first-line imaging or suspected ectopic disease, balancing diagnostic yield against radiation exposure. Surgical management remains the definitive treatment for pediatric PHPT. The extent of surgery is determined by disease etiology, localization findings, and intraoperative assessment, with focused parathyroidectomy favored in sporadic single-gland disease and more extensive approaches required in genetically determined forms. This review highlights a structured diagnostic and therapeutic pathway for pediatric PHPT, emphasizing the integration of biochemical testing, imaging strategies, genetic evaluation, and individualized surgical management to optimize outcomes and reduce long-term morbidity.

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