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Delayed diagnosis of juvenile primary hyperparathyroidism
K R Makhdoomi1, J Chalmers, I W Campbell
1Department of Surgery, Victoria Hospital, Kirkcaldy, Fife, UK.
Journal of the Royal College of Surgeons of Edinburgh
|October 1, 1996
Summary
Primary hyperparathyroidism (PHP) is rare in children but can present in early childhood. This case highlights delayed diagnosis of PHP due to a parathyroid adenoma, emphasizing the need for thorough investigation of hypercalcemia.
Area of Science:
- Pediatric Endocrinology
- Surgical Endocrinology
- Diagnostic Imaging
Background:
- Primary hyperparathyroidism (PHP) is uncommon in pediatric populations, typically affecting adults.
- Delayed diagnosis of PHP in children can lead to prolonged, unexplained hypercalcemia.
- Parathyroid adenomas are the most frequent cause of PHP.
Observation:
- A young female presented with suspected PHP from age 6, remaining undiagnosed for 11 years despite multiple hospitalizations.
- Initial hypercalcemia was misattributed as 'idiopathic'.
- The condition was ultimately diagnosed as secondary to a parathyroid adenoma.
Findings:
- Successful surgical treatment of the parathyroid adenoma resolved the hypercalcemia.
- The case underscores advancements in sensitive parathyroid hormone (PTH) immuno-radiometric assays.
- Radionuclide scanning proved effective for parathyroid adenoma localization.
Implications:
- Hypercalcemia in children should prompt thorough neck exploration to rule out primary hyperparathyroidism.
- Accurate PTH measurement and imaging are crucial for diagnosing pediatric PHP.
- Early diagnosis and treatment of PHP in pediatric patients are essential to prevent long-term complications.