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E Mogas Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain

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A Campos-Martorell Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain

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M Clemente Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain

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L Castaño Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, UPV-EHU, CIBERDEM, Cruces University Hospital, Barakaldo, Spain

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A Moreno-Galdó Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Department of Pediatrics, Children’s University Hospital Vall Hebron, Barcelona, Spain

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D Yeste Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain

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A Carrascosa Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain

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Summary

Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results.

Learning points:

  • Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.

  • Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.

  • Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.

  • Treatment has been well tolerated and no side effects have been detected.

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