[Primary hyperparathyroidism in children]

Area of Science:

• Pediatric Endocrinology
• Surgical Management
• Genetics

Context:

• Primary hyperparathyroidism (PHPT) in pediatric populations is exceptionally rare, with fewer than 100 reported cases in individuals under 16.
• Neonatal PHPT presents a critical, life-threatening condition distinct from later-onset forms.
• PHPT in older children mirrors adult presentations, often sporadic (adenoma) or familial (hyperplasia).

Purpose:

• To review the clinical presentation, diagnosis, and management of primary hyperparathyroidism in children.
• To differentiate between neonatal and later-onset PHPT in pediatric patients.
• To emphasize the importance of genetic screening for hereditary disorders associated with PHPT.

Summary:

• Neonatal PHPT involves chief cell hyperplasia requiring immediate total parathyroidectomy with autotransplantation.
• Sporadic PHPT in older children is typically caused by adenoma, while familial forms, potentially part of polyendocrine syndromes, involve hyperplasia.
• Surgical treatment for PHPT in children necessitates careful consideration of familial history, imaging, and intraoperative histology.

Impact:

• Highlights the critical need for prompt surgical intervention in neonatal PHPT to prevent mortality.
• Underscores the necessity of comprehensive family screening to identify hereditary predispositions to PHPT.
• Provides guidance on tailored surgical approaches based on the etiology and clinical context of pediatric PHPT.