Primary hyperparathyroidism in a paediatric hospital

We retrospectively reviewed the presentation and management of childrenwith primary hyperparathyroidism (PHPT) from 1973 to 1995 at a paediatrictertiary-care centre. There were 11 patients (6 females), aged 12.3-17.7years at presentation, with sporadic PHPT confirmed by histopathology(single adenoma). Presentation consisted of renal colic, or non-specificgastrointestinal, musculoskeletal or neurological symptoms. Misdiagnosiswas common until hypercalcaemia was identified, 0.5-24 months after onsetof symptoms (mean 7.7 months). All patients had hypercalcaemia andlow-normal serum phosphate. The parathyroid hormone (PTH) radioimmunoassayused before 1986 was elevated in 1/4 patients; the intact PTH assay usedafter 1986 was elevated in 7/7 patients. At presentation, six had end-organdamage: band keratopathy, renal lesions, and/or bone disease. Preoperativelocalization was accurate in 0/4 patients diagnosed before 1986, but 5/7patients diagnosed after 1986: three by ultrasound or sestamibi scan alone,and two by ultrasound and technetium scan. Surgical outcome was notdependent upon the accuracy of pre-operative localization. PHPT is rare inchildren but usually associated with end-organ damage, presumably due todelayed diagnosis. It should be considered in the differential diagnosis ofunexplained non-specific complaints. The intact PTH assay greatly assistspre-operative diagnosis. The usefulness of pre- operative localizationrequires further research.