August 28, 2017
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Primary hyperparathyroidism often symptomatic in children

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Children in China diagnosed with primary hyperparathyroidism are often symptomatic and may be at higher risk for rickets or osteomalacia compared with adults, according to findings published in Clinical Endocrinology.

Ou Wang, MD, of the Key Laboratory at the Ministry of Health and the department of endocrinology at Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences in Beijing, and colleagues evaluated 59 children with primary hyperparathyroidism (mean age at onset, 14.1 years) and 118 adults with adult-onset primary hyperparathyroidism admitted to Peking Union Medical College Hospital From 1975 to 2015. Researchers sought to determine the clinical characteristics and molecular genetics among them.

Twenty-four participants were assessed for germline mutation analyses of the MEN1, CDC73, RET, CDKN1B and CaSR genes.

Five children had multiple endocrine neoplasia type 1, one was diagnosed with hyperparathyroidism-jaw tumor syndrome and one was the proband of a family with familial isolated hyperparathyroidism.

At diagnosis, fewer children were asymptomatic (n = 1) compared with adults (10.2%; P = .042). Bone involvement was the most common pediatric symptom (86.4%), followed by urolithiasis (39%). Rickets and osteomalacia were more common (45.8% vs. 23.7%; P = .003) and urolithiasis was less common (39% vs. 55.1%; P = .043) in children compared with adults. Rates of hypophosphatemia were lower (24.6% vs. 83%; P < .001) and rates of hypercalciuria were higher (81.8% vs. 52.3%; P < .001) in children compared with adults.

No significant differences were observed for pathologic types or remission rates after parathyroidectomy or short-term postsurgical complications between children and adults.

Data on 1.5-year’s median duration of follow-up were available for 39 children and 76 adults. Recurrence rates and recurrence time frame did not significantly differ between the two groups.

Eight participants had germline mutations for a 33.3% mutation rate.

According to the researchers, primary hyperparathyroidism is less common in children compared with adults and “parathyroidectomy offered a satisfying cure rate with few complications in pediatric patients.” – by Amber Cox

Disclosures: The authors report no relevant financial disclosures.