ABSTRACT
Objective To summarize the characteristics and molecular genetics of sporadic children /adolescent-onset primary hyperparathyroidism PHPT patients and analyze the difference of characteristics between patients with and without CDC73 gene mutations .Methods Germline mutation analyses of MEN1, CDC73, RET, CDKN1B, and CaSR genes were performed in 22 sporadic children/adolescent-onset PHPT patients .Their clinical data were retrospectively analyzed.Results Four patients were found to carry CDC 73 mutations with the mutation rate of 18%(4/22).Patients with CDC73 gene mutationshad higher rates of parathyroid carcinoma and atypical adenomas than those without ,and the recurrence rate postoperatively was as high as 50%.Conclusions Genetic mutation testing is recommended in spo-radic children/adolescent-onset PHPT patients, especially the CDC73 gene.