Features of the diagnosis of primary hyperparathyroidism in children

Background. Primary hyperparathyroidism (PHPT) is a rare pathology in pediatric and adolescent patients. Collection, analysis and generalization of the literature data and experience of the leading clinics allow to develop unified, statistically substantiated approaches to diagnostics and surgical treatment of this group of patients.

Material and methods. The article presents a retrospective analysis of 17 cases of PHPT in children and adolescents aged from 6 to 18 years operated on in the department of Surgery of St.-Petersburg State Pediatric Medical University in the period from 1973 till 2021. Among those operated there were 10 girls and 7 boys, the M:F ratio was 1:1.4. The mean age of the patients was 12,9±0,71 years.

Results and discussion. The main criteria of the disease diagnosis were elevated blood calcium and parathormone levels, excessive urinary calcium secretion. Manifest forms of the disease were diagnosed in 10 (58,8%) of 17 children. In 3 (17,6%) cases the parathyroid neoplasms were accompanied neither by clinical, nor laboratory manifestations of the disease and were regarded as incidentalomas. Another 4 (23.5%) patients had only laboratory changes (hypercalcemia and hyperparathyrinaemia) that manifested themselves preoperatively. These observations were referred to the asymptomatic form of PHPT.

In 7 (41.2%) cases parathyroid adenomas were found and removed during surgeries for various thyroid diseases (thyroid cancer in 5 cases, diffuse toxic goiter in 1 case). An incidental finding of parathyroid adenoma was during prophylactic thyroidectomy for Sipple syndrome.

A radioisotope method proved to be the most informative way to localize parathyroid tumors.

Conclusion. The diagnosis of the disease in manifest sporadic cases does not differ from that in adults. Genetic study is indicated in the presence of a family history of multiple involvement of the parathyroid glands. Surgical treatment with removal of parathyroid tumor is the main method, which allows to achieve complete recovery. 

1. Clarke BL. Epidemiology of primary hyperparathyroidism. J Clin Densitom. 2013;16(1):8-13. DOI:10.1016/j.jocd.2012.11.009

2. Lawson ML, Miller SF, Ellis G, et al. Primary hyperparathyroidism in a paediatric hospital. QJM. 1996;89(12):921-32. DOI:10.1093/qjmed/89.12.921

3. Allo M, Thompson NW, Harness JK, Nishiyama RH. Primary hyperparathyroidism in children, adolescents, and young adults. World J Surg. 1982;6(6):771-5. DOI:10.1007/BF01655371

4. Harman CR, van Heerden JA, Farley DR, et al. Sporadic primary hyperparathyroidism in young patients: a separate disease entity? Arch Surg. 1999;134(6):651-5. DOI:10.1001/archsurg.134.6.651

5. Roizen J, Levine MA. Primary hyperparathyroidism in children and adolescents. J Chin Med Assoc. 2012;75(9):425-34. DOI:10.1016/j.jcma.2012.06.012

6. Alagaratnam S, Kurzawinski TR. Aetiology, Diagnosis and Surgical Treatment of Primary Hyperparathyroidism in Children: New Trends. Horm Res Paediatr. 2015;83(6):365-75. DOI:10.1159/000381622

7. Davidson JT, Lam CG, McGee RB, et al. Parathyroid cancer in the pediatric patient. J Pediatr Hematol Oncol. 2016;38(1):32-7. DOI:10.1097/MPH.0000000000000443

8. Pashtan I, Grogan RH, Kaplan SP, et al. Primary hyperparathyroidism in adolescents: the same but different. Pediatr Surg Int. 2013;29(3):275-9. DOI:10.1007/s00383-012-3222-3

9. Kollars J, Zarroug AE, van Heerden J, et al. Primary Hyperparathyroidism in Pediatric Patients. Pediatrics. 2005;115(4):974-80. DOI:10.1542/peds.2004-0804

10. Гостимский А.В., Матвеева З.С., Романчишен А.Ф. и др. Первичный гиперпаратиреоз в детском возрасте. Педиатр. 2017;8(5):20-4 DOI:10.17816/PED8520-24

11. Ramkumar S, Kandasamy D, Vijay MK, еt al. Genu valgum and primary hyperparathyroidism in children. Int J Case Rep Images. 2014;5(6):401-7. DOI:10.1210/jc.2012-4022

12. Mamedova EO, Mokrysheva NG, Rozhinskaya LY. Characteristics of primary hyperparathyroidism in young patients. Problems of Endocrinology. 2018;64(3):163-9 (in Russian). DOI:10.14341/probl9399

13. McKenna K, Dunbar NS, Parham K. Why is primary hyperparathyroidism more severe in children? Med Hypotheses. 2021;(147):110482. DOI:10.1016/j.mehy.2020.110482

14. Li C-C, Yang C, Wang S, еt al. A 10-year Retrospective Study of Primary Hyperparathyroidism in Children. Exp Clin Endocrinol Diabetes. 2012;120(04):229-33. DOI:10.1055/s-0032-1301895

15. Alagaratnam S, Brain C, Spoudeas H, et al. Surgical treatment of children with hyperparathyroidism: single centre experience. J Pediatr Surg. 2014;49(11):1539-43. DOI:10.1016/j.jpedsurg.2014.05.032

16. Cupisti K, Raffel A, Dotzenrath C, et al. Primary hyperparathyroidism in the young age group: particularities of diagnostic and therapeutic schemes. World J Surg. 2004;28(11):1153-6. DOI:10.1007/s00268-004-7671-2

17. Zivaljevic V, Jovanovic M, Diklic A, et al. Differences in primary hyperparathyroidism characteristics between children and adolescents. J Pediatr Surg. 2020;55(8):1660-2. DOI:10.1016/j.jpedsurg.2019.09.023

18. Jovanovic M, Paunovic I, Zdravkovic V, et al. Case-control study of primary hyperparathyroidism in juvenile vs. adult patients. Int J Pediatr Otorhinolaryngol. 2020;131(8):109895. DOI:10.1016/j.ijporl.2020.109895

19. Starker LF, Akerstrom T, Long WD, et al. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer. 2012;3(1-2):44-51. DOI:10.1007/s12672-011-0100-8

20. Giusti F, Cavalli L, Cavalli T, Brandi ML. Hereditary hyperparathyroidism syndromes. Clin Densitom. 2013;16(1):69-74. DOI:10.1016/j.jocd.2012.11.003