Primary hyperparathyroidism in children: Insights from a single-center cohort

Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in children, often presenting with symptomatic hypercalcemia and end-organ damage.

We aim to describe the clinical features, treatment outcomes, and follow-up of pediatric PHPT patients at a tertiary center in Portugal.

A retrospective study including all patients under 18 years diagnosed with PHPT between 2012 and 2024. Data on demographics, clinical features, laboratory results, imaging studies, genetic testing, surgical outcomes, and follow-up were collected and analyzed.

Six patients (66.6% male) with a median age of 16 years (range: 9-17) were included. Half of the patients (n = 3) presented with symptoms, including bone pain and nephrolithiasis. A genetic mutation was identified in 50% of cases: 2 patients with MEN 1 and 1 patient with CDC73 mutation. Ultrasound and Tc99m-sestamibi scans demonstrated high concordance (80%) for adenoma localization. Of the four patients who underwent surgery, all had solitary adenomas, achieving biochemical cure with a median follow-up of 103 months. Postoperative complications were minimal, with transient hypocalcemia in 2 patients and one case of hungry bone syndrome. No cases of persistent or recurrent PHPT were observed.

Solitary parathyroid adenoma is the leading cause of pediatric PHPT. Surgical treatment is highly effective and safe, with excellent cure rates and few complications. Genetic testing and individualized imaging strategies are crucial for optimal management. Larger studies are needed to establish evidence-based guidelines for pediatric PHPT.