Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children

Area of Science:

• Pediatric Endocrinology
• Skeletal Biology
• Endocrine Surgery

Background:

• Primary hyperparathyroidism is rare in children, with distinct presentations based on age and etiology.
• Infantile forms are linked to calcium sensing receptor mutations causing hypercalcemic crises.
• Later childhood presentations often involve parathyroid adenoma or hyperplasia, frequently familial and associated with severe bone disease.

Observation:

• This study reports on four male patients with juvenile primary hyperparathyroidism.
• Three patients presented with bone disease resembling rickets-osteomalacia.
• One patient had asymptomatic hypercalcemia and short stature.

Findings:

• Parathyroid adenoma was diagnosed in all four patients.
• All patients underwent successful parathyroid adenoma resection.
• Post-surgery, patients experienced initial hypocalcemia followed by normocalcemia; one developed pancreatitis.

Implications:

• Parathyroid adenomas are a significant, though uncommon, cause of pediatric skeletal disease.
• Juvenile hyperparathyroidism can be misdiagnosed as hypovitaminosis D-related bone conditions.
• Early recognition and surgical management are crucial for pediatric patients with parathyroid adenomas.