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Skeletal Deformity in Children with Primary Hyperparathyroidism.

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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.