• Genetics
• Endocrinology
• General Paediatrics

General paediatricians on the front line will occasionally be faced with a child or adolescent with newly presenting hypercalcaemia. The way forwards will not necessarily be second nature and a quick internet search, review of a pertinent chapter in a textbook or phone call to a colleague may follow. Making a diagnosis quickly has become much easier now that many biochemistry laboratories can assay parathyroid hormone (PTH) levels within a matter of hours. An elevated PTH in the context of hypercalcaemia suggests hyperparathyroidism. Measurable PTH excludes many of the more worrisome causes of hypercalcaemia such as an underlying malignant process.

Once a diagnosis of hyperparathyroidism has been made, then the paediatrician may wonder why a disorder that is relatively common in adult practice has presented in childhood. Paediatricians will be aware of genetic disorders such as multiple endocrine neoplasia (MEN)1 and MEN2 where hyperparathyroidism is frequently a feature. Is the presentation of hyperparathyroidism in the young person indicative of such a disorder or is this simply ‘adult’ disease, without a clear underlying genetic predisposition, presenting at an early age?

The article by Langusch et al 1 will help paediatricians to address this important …