Aetiology, Diagnosis and Surgical Treatment of Primary Hyperparathyroidism in Children: New Trends.

Primary hyperparathyroidism (PHPT) in children is a rare disorder with sharp contrasts in its presentation and aetiology compared with the disease process in adults. This review outlines the current literature, which is limited to about 200 cases, with reference to the aetiology, clinical features, outcomes of investigations, and surgery in children affected by PHPT. Familial conditions account for almost half of all cases of PHPT in children, suggesting that routine genetic testing would be appropriate. Neonatal severe hyperparathyroidism requires urgent medical attention, and performing total parathyroidectomies offers cure, though conservative management is successful in selected cases. Familial hyperparathyroidism in older children can be caused by conditions such as multiple endocrine neoplasia types 1 and 2a, hyperparathyroidism-jaw tumour syndrome and familial hyperparathyroidism. The role of surgery for this group is discussed. The use of ultrasound and MIBI (99mTc-methoxyisobutylnitrile) scanning appears to accurately localise solitary adenomas in sporadic PHPT, thereby supporting the role of minimally invasive parathyroidectomy in children.