Primary hyperparathyroidism, typically a disease of the middle aged and the old, is less commonly seen in children. In children the disease has a bimodal age distribution with calcium sensing receptor mutation presenting in infancy as hypercalcemic crises and parathyroid adenoma or hyperplasia presenting later in childhood with bone disease. The childhood parathyroid adenomas are often familial with multiglandular disease and manifest with severe bone disease unlike adults. We report a series of four male patients with juvenile primary hyperparathyroidism, three of whom presented with bone disease masquerading as rickets-osteomalacia. One patient had asymptomatic hypercalcemia with short stature. Parathyroid adenoma was detected in all the four cases and all of them underwent resection of parathyroid adenomas confirmed on histopathology. Post-surgery all the cases had initial hypocalcaemia followed by normocalcemia. One case developed pancreatitis after surgery even after achieving normocalcemia. We conclude that parathyroid adenomas, although uncommon in children, are an important cause of skeletal disease that may initially be confused with hypovitaminosis D.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
1. Wermers RA, Khosla S, Atkinson EJ, Achenbach SJ, Oberg AL, et al. Incidence of primary hyperparathyroidism in Rochester, Minnesota, 1993–2001: an update on the changing epidemiology of the disease. J Bone Miner Res Off J Am Soc Bone Miner Res 2006;21:171–7.10.1359/JBMR.050910Search in Google Scholar PubMed
2. Walczyk A, Szalecki M, Kowalska A. Primary hyperparathyroidism: a rare endocrinopathy in children. Two case reports. Endokrynol Pol 2011;62:346–50.Search in Google Scholar
4. Alagaratnam S, Kurzawinski TR. Aetiology, diagnosis and surgical treatment of primary hyperparathyroidism in children: new trends. Horm Res Paediatr 2015;83:365–75.10.1159/000381622Search in Google Scholar PubMed
5. Roizen J, Levine MA. A meta-analysis comparing the biochemistry of primary hyperparathyroidism in youths to the biochemistry of primary hyperparathyroidism in adults. J Clin Endocrinol Metab 2014;99:4555–64.10.1210/jc.2014-2268Search in Google Scholar PubMed PubMed Central
6. Marwaha RK, Tandon N, Reddy DR, Aggarwal R, Singh R, et al. Vitamin D and bone mineral density status of healthy schoolchildren in northern India. Am J Clin Nutr 2005;82:477–82.10.1093/ajcn/82.2.477Search in Google Scholar
7. Ramkumar S, Kandasamy D, Vijay MK, Tripathi M, Jyotsna VP. Genu valgum and primary hyperparathyroidism in children. Int J Case Rep Images 2014;5:401–7.10.5348/ijcri-201455-CS-10041Search in Google Scholar
8. Dutta D, Kumar M, Das RN, Datta S, Biswas D, et al. Primary hyperparathyroidism masquerading as rickets: diagnostic challenge and treatment outcomes. J Clin Res Pediatr Endocrinol 2013;5:266–9.10.4274/Jcrpe.1060Search in Google Scholar PubMed PubMed Central
11. Menon P, Dayal D, Rao SG, Bhattacharya A, Narasimha Rao KL. Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis. J Pediatr Endocrinol Metab 2016;29: 853–6.10.1515/jpem-2015-0369Search in Google Scholar PubMed
12. Akyay A, Cihangiroglu G, Özkan Y, Deveci U, Bahceci S, et al. Primary hyperparathyroidism as an extremely rare cause of secondary myelofibrosis in childhood. J Pediatr Endocrinol Metab 2013;26:1185–8.10.1515/jpem-2012-0421Search in Google Scholar PubMed
©2016 Walter de Gruyter GmbH, Berlin/Boston