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Primary hyperparathyroidism in children: Insights from a single-center cohort
Henrique Alexandrino1, Nuno Rocha Jesus1, Carlos Tavares Bello2
1Endocrinology, Unidade Local de Saúde Gaia, Espinho, Portugal.
Insights
Pediatric primary hyperparathyroidism (PHPT) is often caused by solitary parathyroid adenomas. Surgical treatment offers high cure rates and safety for children with PHPT.
Area of Science:
- Pediatric Endocrinology
- Surgical Management of Endocrine Disorders
- Clinical Genetics
Background:
- Primary hyperparathyroidism (PHPT) in children is a rare endocrine disorder.
- It frequently presents with symptomatic hypercalcemia and end-organ damage.
- Identifying genetic causes is crucial for understanding disease progression.
Purpose of the Study:
- To describe clinical features, treatment outcomes, and follow-up of pediatric PHPT patients.
- To evaluate the effectiveness and safety of surgical interventions.
- To highlight the role of genetic testing and imaging in management.
Main Methods:
- Retrospective study of pediatric PHPT patients (under 18 years) from 2012-2024.
- Data collection included demographics, clinical presentation, lab results, imaging, and genetic testing.
- Surgical outcomes and follow-up data were analyzed.
Main Results:
- Six pediatric patients (median age 16) were studied; 50% had genetic mutations (MEN 1, CDC73).
- Solitary parathyroid adenomas were identified in surgically treated patients.
- Surgical intervention achieved biochemical cure in all cases with minimal complications.
Conclusions:
- Solitary parathyroid adenoma is the primary cause of pediatric PHPT.
- Surgery is a highly effective and safe treatment for pediatric PHPT.
- Genetic testing and tailored imaging are essential for optimal patient management.
Introduction:
Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in children, often presenting with symptomatic hypercalcemia and end-organ damage.
Aim Of The Study:
We aim to describe the clinical features, treatment outcomes, and follow-up of pediatric PHPT patients at a tertiary center in Portugal.
Material And Methods:
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.
Results:
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.
Conclusions:
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.
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