Preview

Obesity and metabolism

Advanced search

Differential diagnosis of idiopathic hypoparathyroidism: a case series

https://doi.org/10.14341/omet12726

Abstract

Idiopathic hypoparathyroidism is a rare endocrine disease diagnosed when all possible causes of hypoparathyroidism are excluded.

Data on the prevalence of idiopathic hypoparathyroidism is limited, there are several local studies in some countries. The variety and non-specificity of the hypoparathyroidism symptoms, similarity to other diseases (eg. epilepsy), causes the misdiagnosis and delay in pathogenetic therapy.

Idiopathic hypoparathyroidism is rare. Therefore, the absence of neck surgery in the anamnesis practically excludes hypoparathyroidism from the diagnostic search. Moreover, it is necessary to rule out all known causes of decreased PTH hypoparathyroidism to determine the form of non-surgical hypoparathyroidism.

We present a case series of idiopathic hypoparathyroidism, which demonstrates the difficulty in diagnosis, and the clinical features of the disease. The article covers also the problem of modern diagnostic approaches including the determination of the interferon-omega for patients with suspected autoimmune polyglandular syndrome type 1 as the most common cause of nonsurgical hypoparathyroidism.

About the Authors

T. M. Afonasyeva
Endocrinology Research Centre
Russian Federation

Tatiana M. Afonasyeva, resident

Moscow



E. V. Kovaleva
Endocrinology Research Centre
Russian Federation

Elena V. Kovaleva, MD

11 Dm. Ulyanova street, 117036 Moscow, Russia



A. K. Eremkina
Endocrinology Research Centre
Russian Federation

Anna K. Eremkina, MD, PhD

Moscow



N. G. Mokrysheva
Endocrinology Research Centre
Russian Federation

Natalia G. Mokrysheva, MD, PhD, Professor

Moscow



References

1. Umiarova DS, Grebennikova TA, Tarbaeva NV, Belaya ZE. Treatment of severe idiopathic hypoparathyroidism: a case report. Osteoporosis and bone diseases. 2018;21(2):36-40. (In Russ.). doi: https://doi.org/10.14341/osteo9878

2. Kim SH, Rhee Y, Kim YM, et al. Prevalence and complications of nonsurgical hypoparathyroidism in Korea: A nationwide cohort study. PLoS One. 2020;15(5):e0232842. doi: https://doi.org/10.1371/journal.pone.0232842

3. Astor MC, Lovas K, Debowska A, et al. Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway. J Clin Endocrinol Metab. 2016;101(8):3045-3053. doi: https://doi.org/10.1210/jc.2016-1477

4. Cianferotti L, Brandi ML. Chapter 50 — The Molecular Genetics of Hypoparathyroidism. Ed. by Bilezikian J.P. San Diego: Academic Press; 2015. P. 719-736. doi: https://doi.org/10.1016/B978-0-12-397166-1.00050-3

5. Orlova EM, Bukina AM, Kuznetsova ES, et al. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr. 2010;73(6):449-457. doi: https://doi.org/10.1159/000313585

6. Wolff AS, Erichsen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab. 2007;92(2):595-603. doi: https://doi.org/10.1210/jc.2006-1873

7. Raue F, Pichl J, Dörr HG, et al. Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia — a German survey. Clin Endocrinol (Oxf). 2011;75(6):760-765. doi: https://doi.org/10.1111/j.1365-2265.2011.04142.x

8. Nakamura Y, Matsumoto T, Tamakoshi A, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol. 2000;10(1):29-33. doi: https://doi.org/10.2188/jea.10.29

9. Underbjerg L, Sikjaer T, Mosekilde L, et al. The Epidemiology of Nonsurgical Hypoparathyroidism in Denmark: A Nationwide Case Finding Study. J Bone Miner Res. 2015;30(9):1738-1744. doi: https://doi.org/10.1002/jbmr.2501

10. Clarke BL, Brown EM, Collins MT, et al. Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016;101(6):2284-2299. doi: https://doi.org/10.1210/jc.2015-3908

11. Powers J, Joy K, Ruscio A, et al. Prevalence and incidence of hypoparathyroidism in the United States using a large claims database. J Bone Miner Res. 2013;28(12):2570-2576. doi: https://doi.org/10.1002/jbmr.2004

12. Mannstadt M, Bilezikian JP, Thakker RV, et al. Hypoparathyroidism. Nat Rev Dis Primers. 2017;3:17055. doi: https://doi.org/10.1038/nrdp.2017.55

13. Foley KF, Boccuzzi L. Urine Calcium: Laboratory Measurement and Clinical Utility. Lab Med. 2010;41(11):683-686. doi: https://doi.org/10.1309/LM9SO94ZNBHEDNTM

14. Li L, Yang H, Li J, et al. Misdiagnosis of idiopathic hypoparathyroidism: A case report and literature review. Medicine (Baltimore). 2018;97(9):e9884. doi: https://doi.org/10.1097/MD.0000000000009884

15. Troshina VV, Grebennikova TA, Belaya ZhE. A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1. Almanac of Clinical Medicine. 2019;47(2):175-179. (In Russ.). doi: https://doi.org/10.18786/2072-0505-2019-47-017

16. Meloni A, Furcas M, Cetani F, et al. Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2008;93(11):4389-4397. doi: https://doi.org/10.1210/jc.2008-0935

17. Oftedal BE, Wolff AS, Bratland E, et al. Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. Clin Immunol. 2008;129(1):163-169. doi: https://doi.org/10.1016/j.clim.2008.07.002

18. Sozaeva LS. The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome. Problems of Endocrinology. 2015;61(3):43-46. (In Russ.). doi: https://doi.org/10.14341/probl201561343-46

19. Zivin JR, Gooley T, Zager RA, Ryan MJ. Hypocalcemia: a pervasive metabolic abnormality in the critically ill. Am J Kidney Dis. 2001;37(4):689-698. doi: https://doi.org/10.1016/s0272-6386(01)80116-5

20. Carlstedt F, Lind L, Rastad J, et al. Parathyroid hormone and ionized calcium levels are related to the severity of illness and survival in critically ill patients. Eur J Clin Invest. 1998;28(11):898-903. doi: https://doi.org/10.1046/j.1365-2362.1998.00391.x

21. Simões CA, Costa MK, Comerlato LB, et al. A Case of “Late” Postsurgical Hypoparathyroidism. Case Rep Endocrinol. 2017;2017:1-2. doi: https://doi.org/10.1155/2017/3962951

22. Kamath SD, Rao BS. Delayed Post-Surgical Hypoparathyroidism: The Forgotten Chameleon! J Clin Diagn Res. 2017;11(2):OD07-OD09. doi: https://doi.org/10.7860/JCDR/2017/23609.9260

23. Cox RE. Hypoparathyroidism: an unusual cause of seizures. Ann Emerg Med. 1983;12(5):314-315. doi: https://doi.org/10.1016/s0196-0644(83)80517-4

24. Blanchard BM. Focal Hypocalcemic Seizures 33 Years After Thyroidectomy. Archives of Internal Medicine. 1962;110(3):382-385. doi: https://doi.org/10.1001/archinte.1962.03620210106018

25. Bellamy RJ. Kendall-Taylor P. Unrecognized hypocalcaemia diagnosed 36 years after thyroidectomy. Journal of the Royal Society of Medicine. 1995;88(12):690-691. doi: https://doi.org/10.1155/2020/1735351


Supplementary files

1. Figure 1. Diagnostic search for idiopathic hypoparathyroidism [4].
Subject
Type Исследовательские инструменты
View (222KB)    
Indexing metadata ▾
2. Figure 2. Changes in clinical and laboratory parameters.
Subject
Type Исследовательские инструменты
View (194KB)    
Indexing metadata ▾

Review

For citations:


Afonasyeva T.M., Kovaleva E.V., Eremkina A.K., Mokrysheva N.G. Differential diagnosis of idiopathic hypoparathyroidism: a case series. Obesity and metabolism. 2021;18(3):276-281. (In Russ.) https://doi.org/10.14341/omet12726

Views: 2161


ISSN 2071-8713 (Print)
ISSN 2306-5524 (Online)