Primary hyperparathyroidism in Chinese children and adolescents: A single-center experience at Peking Union Medical College Hospital

Abstract

Objective

Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. Our study aimed to summarize the clinical characteristics and the molecular genetics in patients with pediatric PHPT in China.

Design

Retrospective observational study.

Methods

A total of 59 pediatric PHPT patients (onset age <18 years) admitted to Peking Union Medical College Hospital from 1975 to 2015 were retrospectively identified. A group of 118 adult PHPT patients who presented during the same period were selected for comparing clinical characteristics between the two groups. Germline mutation analyses of the MEN1, CDC73, RET, CDKN1B, and CaSR genes were performed in 24 patients.

Results

Only one pediatric patient (1.7%) with PHPT was asymptomatic. Bone involvement, urolithiasis, acute pancreatitis, and hypercalcemic crisis were present in 86.4%, 39.0%, 6.8%, and 10.2% of cases, respectively. Pediatric PHPT presented more commonly with rickets/osteomalacia compared to adult PHPT. Fifty-seven pediatric patients underwent surgery. Adenoma, hyperplasia, atypical adenoma, and carcinoma occurred in 80.7%, 10.5%, 7.0% and 1.8% of cases, respectively. Of the 24 pediatric patients screened for genetic mutations, two patients were found to carry MEN1 mutations and six were found to carry CDC73 mutations. The mutation rate was 22.2%(4/18) in sporadic patients.

Conclusion

Unlike adults with PHPT, most pediatric PHPT were symptomatic. Rickets/osteomalacia were more common in pediatric patients than in their adult counterparts. Pediatric PHPT patients can be treated successfully with surgical intervention. Genetic screening of the MEN1 and CDC73 genes for mutations should be recommended in pediatric patients due to a relatively high mutation rate.

This article is protected by copyright. All rights reserved.

http://ift.tt/2xnPLKO