Paediatric primary hyperparathyroidism in rarely a familial disorder

May 1 2015

By Eleanor McDermid, Senior medwireNews Reporter

Researchers report that primary hyperparathyroidism (PHPT) in children and adolescents is usually caused by a sporadic single parathyroid adenoma.

Of the 31 patients, aged up to 18 years of age, with PHPT seen at the team’s unit over a 35-year period, just three came from a family with confirmed multiple endocrine neoplasia type 1 syndrome (MEN1), and three had a family with a history of PHPT but no evidence of MEN1.

All but one of the 25 patients with sporadic PHPT presented with classical symptoms of hypercalcaemia, with PHPT in the remaining patient discovered during surgery for papillary thyroid cancer, report Andrew Holland (The Children's Hospital at Westmead, Sydney, New South Wales, Australia) and study co-authors.

They say that previous studies have reported high rates of MEN1, which has led to the assumption that this is common among children with PHPT, and the frequent recommendation that they should undergo open four-gland parathyroid exploration to reduce the risk of surgical failure.

“We believe that the study from our unit, being the largest referral centre for paediatric parathyroid surgery for a population of approximately 5 million, more likely reflects the general community experience”, the team writes in the Archives of Disease in Childhood.

“It would tend to support the current international guidelines, with genetic testing restricted to those children with more than one parathyroid tumour or two or more MEN1 tumours.”

In the early years of the team’s study, all patients initially underwent open four-gland parathyroid exploration. But during the more recent years, patients with an identifiable probable culprit adenoma were instead offered focused image-guided procedures, with this occurring in 36% of patients with sporadic PHPT, two from the MEN1 group and one from the familial PHPT group.

Holland et al stress that the minimally invasive image-guided procedures resulted in cure of hypercalcaemia in all but one patient, suggesting that it does not compromise the chances of surgical success. And the one patient who remained hypercalcaemic after surgery had MEN1 but opted for an image-guided procedure nonetheless.

“The data from this study demonstrate that PHPT in childhood and adolescence, with the notable exception of the predominance of symptomatic presentations, represents essentially the same disorder as in adulthood”, say the researchers.

They say the high success rate with minimally invasive surgical procedures is “in marked contrast to the previously held view that PHPT in children is a familial disorder until proven otherwise.”

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