Skeletal Deformity in Children with Primary Hyperparathyroidism.

Area of Science:

• Pediatric Endocrinology
• Skeletal Dysplasias
• Nephrology

Background:

• Genu valgum is infrequently associated with Primary Hyperparathyroidism (PHPT).
• PHPT is typically caused by parathyroid adenoma or hyperplasia (80-85% of cases).
• This report details two pediatric cases presenting with genu valgum and lower extremity pain.

Purpose of the Study:

• To highlight the rare presentation of genu valgum in pediatric PHPT.
• To emphasize the diagnostic pathway for identifying parathyroid adenoma in children presenting with skeletal deformities.

Main Methods:

• Clinical presentation of two adolescent females with genu valgum and pain.
• Biochemical evaluation including serum calcium, phosphate, alkaline phosphatase, creatinine, and parathormone.
• Radiological investigations: X-rays, ultrasound of the thyroid, and SPECT/CT.

Main Results:

• Both patients exhibited hypercalcemia, hypophosphatemia, elevated alkaline phosphatase, and raised parathormone.
• Radiographs revealed features of hyperparathyroid osteodystrophy, including bone cysts and 'brown tumors'.
• Ultrasound and SPECT/CT confirmed active parathyroid adenomas.

Conclusions:

• Genu valgum can be an indicator for investigating PHPT in pediatric patients.
• Serum calcium and parathormone levels are highly diagnostic for PHPT.
• Imaging modalities like ultrasound and SPECT/CT are vital for localizing parathyroid adenomas and guiding surgical intervention.