Skip to main content

Clinical Presentation of Hypoparathyroidism

  • Chapter
  • First Online:
Hypoparathyroidism

Abstract

Hypoparathyroidism is a rare disorder that most commonly presents early after thyroid, parathyroid, or laryngeal surgery. The disorder can also present months and even years after the causative surgical procedure. Therefore, the astute clinician must be aware of the past surgical history in any patient who presents with reduced serum calcium levels and inappropriately normal or frankly low PTH levels with or without clinical manifestations of hypocalcemia. Variations in the severity of the abnormal mineral balance account, at least in part, for the nature and extent of the clinical presentation. Mildly low serum calcium may go undetected for years and produce little to no clinical complaints. Severely low and rapid falls in serum calcium tend to present with neuromuscular, sensory, and central nervous system complaints and need to be diagnosed and treated rapidly. The clinician should look for any of the many signs and symptoms of nonsurgical forms of hypoparathyroidism when the biochemical diagnosis is clear, but there is no history of prior procedure. To make the correct diagnosis, careful family history and possibly family screening are needed, as well as a thorough physical examination and assessment. In many cases, genetic testing will be needed to come to a definitive diagnosis.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 199.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Shoback D (2008) Hypoparathyroidism. N Engl J Med 359:391–403

    Article  CAS  PubMed  Google Scholar 

  2. Bringhurst FR, Demay MB, Kronenberg KM (2011) Hormones and disorders of mineral metabolism. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM (eds) Williams textbook of endocrinology, 12th edn. Elsevier/Saunders, Philadelphia, pp 1237–1304

    Chapter  Google Scholar 

  3. Rubin MR, Levine M (2013) Hypoparathyroidism and pseudohypoparathyroidism. In: Rosen CJ (ed) Primer on the metabolic bone diseases and disorders of mineral metabolism, 8th edn. Wiley-Blackwell, Ames, pp 579–589

    Chapter  Google Scholar 

  4. Lienhardt-Roussie A, Linglart A (2012) Hypoparathyroidism in children. In: Licata AA, Lerma EV (eds) Diseases of the parathyroid glands. Springer, New York, pp 299–310

    Chapter  Google Scholar 

  5. Carpenter TO (2013) Disorders of mineral metabolism in childhood. In: Rosen CJ (ed) Primer on the metabolic bone diseases and disorders of mineral metabolism, 8th edn. Wiley-Blackwell, Ames, pp 651–658

    Chapter  Google Scholar 

  6. Webber SA, Hatchwell E, Barber JC, Daubeney PE, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR (1996) Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr 129(1):26–32

    Article  CAS  PubMed  Google Scholar 

  7. Thakker RV (2004) Genetics of endocrine and metabolic disorders: parathyroid. Rev Endocr Metab Disord 5:37–51

    Article  CAS  PubMed  Google Scholar 

  8. Tsang RC, Light IJ, Sutherland JM, Kleinman LI (1973) Possible pathogenetic factors in neonatal hypocalcemia of prematurity. The role of gestation, hyperphosphatemia, hypomagnesemia, urinary calcium loss, and parathormone responsiveness. J Pediatr 82(3):423–429

    Article  CAS  PubMed  Google Scholar 

  9. Stefanaki E, Koropuli M, Stefanaki S, Tsilimigaki A (2005) Atrioventricular block in preterm infants caused by hypocalcemia: a case report and review of the literature. Eur J Obstet Gynecol Reprod Biol 120(1):115–116

    Article  PubMed  Google Scholar 

  10. Thomas TC, Smith JM, White PC, Adhikari S (2012) Transient neonatal hypocalcemia: presentation and outcomes. Pediatrics. doi:10.1542/peds.2011-2659

    Google Scholar 

  11. Hsu SC, Levine MA (2004) Perinatal calcium metabolism: physiology and pathophysiology. Semin Neonatol 9(1):23–36

    Article  PubMed  Google Scholar 

  12. Gittleman IF, Pincus JB (1951) Influence of diet on the occurrence of hyperphosphatemia and hypocalcemia in the newborn infant. Pediatrics 8(6):778–787

    CAS  PubMed  Google Scholar 

  13. Fukugawa M, Kurokawa K (2002) Calcium homeostasis and imbalance. Nephron 92(suppl 1):41–45

    Article  PubMed  Google Scholar 

  14. Rodriguez-Ortiz ME, Lopez I, Munoz-Castaneda JR, Martinez-Moreno JM, Ramirez AP, Pineda C, Canalejo A, Jaeger P, Aguilera-Tejero E, Rodriguez M, Felsenfeld A, Almaden Y (2012) Calcium deficiency reduces circulating levels of FGF23. J Am Soc Nephrol 23:1190–1197

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  15. Quinn SJ, Thomsen AR, Pang JL, Kantham L, Brauner-Osborne H, Pollak M, Goltzman D, Brown EM (2013) Interactions between calcium and phosphorus in the regulation of the production of fibroblast growth factor 23 in vivo. Am J Physiol Endocrinol Metab 304(3):E310–E320

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  16. Al-Azem H, Khan AA (2012) Hypoparathyroidism. Best Pract Res Clin Endocrinol Metab 26(4):517–522

    Article  CAS  PubMed  Google Scholar 

  17. Dittmar M, Kahaly GJ (2003) Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. J Clin Endocrinol Metab 88:2983–2992

    Article  CAS  PubMed  Google Scholar 

  18. Eisenbarth GS, Gottlieb PA (2004) Autoimmune polyendocrine syndromes. N Engl J Med 350:2068–2079

    Article  CAS  PubMed  Google Scholar 

  19. Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443–1452

    Article  CAS  PubMed  Google Scholar 

  20. Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K, Thakker RV, Pei Y (2005) Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Clin Endocrinol Metab 90(4):2445–2450

    Article  CAS  PubMed  Google Scholar 

  21. Marx SJ (2000) Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 343:1863–1875

    Article  CAS  PubMed  Google Scholar 

  22. Mannstadt M, Clarke BL, Vokes T, Brandi ML, Ranganath L, Fraser WD, Lakatos PL, Bajnok L, Garceau R, Mosekilde L, Lagast H, Shoback D, Bilezikian JP (2013) Efficacy and safety of recombinant human parathyroid hormone (1–84) in hypoparathyroidism (REPLACE): a double-blind, placebo-controlled, randomised phase 3 study. Lancet Diabetes Endocrinol 1(4):275–283

    Article  CAS  PubMed  Google Scholar 

  23. Bilezikian JP, Khan A, Potts JT Jr, Brandi ML, Clarke BL, Shoback D, Jüppner H, D’Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J (2011) Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res 26(10):2317–2337

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  24. Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr (1996) Mutations in the Ca2+ -sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5(5):601–606

    Article  CAS  PubMed  Google Scholar 

  25. Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med 368(26):2476–2486

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  26. Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H (2013) Germline mutations affecting Gα11 in hypoparathyroidism. N Engl J Med 368(26):2532–2534

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV (2005) An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest 115:2822–2831

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  28. Parvari R, Diaz GA, Hershkovitz E (2007) Parathyroid development and the role of tubulin chaperone E. Horm Res 67:12–21

    Article  CAS  PubMed  Google Scholar 

  29. Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD, HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 32:448–452

    Article  CAS  PubMed  Google Scholar 

  30. Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RDG (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66:193–196

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  31. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S et al (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320(20):1293–1299

    Article  CAS  PubMed  Google Scholar 

  32. Thakker RV, Bringhurst FR, Juppner H (2013) Calcium regulation calcium homeostasis and genetic disorders. In: Potts JT, Jameson JL, De Groot L (eds) Endocrinology adult and pediatric: the parathyroid gland and bone metabolism. Elsevier/Saunders, Philadelphia, p 1148

    Google Scholar 

  33. Angelopoulos NG, Goula A, Rombopoulos G, Kaltzidou V, Katounda E, Kaltsas D, Tolis G (2006) Hypoparathyroidism in transfusion-dependent patients with β-thalassemia. J Bone Miner Metab 24:138–145

    Article  PubMed  Google Scholar 

  34. Toumba M, Sergis A, Kanaris C, Skordis N (2007) Endocrine complications in patients with thalassaemia major. Pediatr Endocrinol Rev 5:642–648

    PubMed  Google Scholar 

  35. de Seze S, Solnica J, Mitrovic D, Miravet L, Dorfmann H (1972) Joint and bone disorders and hypoparathyroidism in hemochromatosis. Semin Arthritis Rheum 2:71–94

    Article  PubMed  Google Scholar 

  36. Carpenter TO, Carnes DL Jr, Anast CS (1983) Hypoparathyroidism in Wilson’s disease. N Engl J Med 309:873–877

    Article  CAS  PubMed  Google Scholar 

  37. Brown EM (2007) Clinical lessons from the calcium-sensing receptor. Nat Clin Pract Endocrinol Metab 3:122–133

    Article  CAS  PubMed  Google Scholar 

  38. Egbuna OI, Brown EM (2008) Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 22:129–148

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  39. Yamamoto M, Akatsu T, Nagase T, Ogata E (2000) Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J Clin Endocrinol Metab 85:4583–4591

    Article  CAS  PubMed  Google Scholar 

  40. Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, Kottler ML, Brown EM, Garabédian M (2001) Activating mutations of the calcium sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 86:5313–5323

    Article  CAS  PubMed  Google Scholar 

  41. Kifor O, McElduff A, LeBoff MS, Moore FD Jr, Butters R, Gao P, Cantor TL, Kifor I, Brown EM (2004) Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. J Clin Endocrinol Metab 89:548–556

    Article  CAS  PubMed  Google Scholar 

  42. Tong GM, Rude RK (2005) Magnesium deficiency in critical illness. J Intensive Care Med 20:3–17

    Article  PubMed  Google Scholar 

  43. Bastepe M (2008) The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 626:27–40

    Article  CAS  PubMed  Google Scholar 

  44. Fukunaga M, Otsuka N, Ono S, Kajihara Y, Nishishita S, Nakano Y, Yamamoto I, Torizuka K, Morita R (1987) Computed tomography of basal ganglia calcifications in pseudo- and idiopathic hypoparathyroidism. Radiat Med 5:187–190

    CAS  PubMed  Google Scholar 

  45. Abugassa S, Nordenström J, Eriksson S, Sjödén G (1993) Bone mineral density in patients with chronic hypoparathyroidism. J Clin Endocrinol Metab 76:1617–1621

    CAS  PubMed  Google Scholar 

  46. Seeman E, Wahner HW, Offord KP, Kumar R, Johnson WJ, Riggs BL (1982) Differential effects of endocrine dysfunction on the axial and the appendicular skeleton. J Clin Invest 69:1302–1309

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  47. Fujiyama K, Kiriyama T, Ito M, Nakata K, Yamashita S, Yokoyama N, Nagataki S (1995) Attenuation of postmenopausal high turnover bone loss in patients with hypoparathyroidism. J Clin Endocrinol Metab 80:2135–2138

    CAS  PubMed  Google Scholar 

  48. Touliatos JS, Sebes JI, Hinton A, McCommon D, Karas JG, Palmieri GM (1995) Hypoparathyroidism counteracts risk factors for osteoporosis. Am J Med Sci 310:56–60

    Article  CAS  PubMed  Google Scholar 

  49. Rubin MR, Bilezikian JP (2010) Hypoparathyroidism: clinical features, skeletal microstructure and parathyroid hormone replacement. Arq Bras Endocrinol Metabol 54(2):220–226

    Article  PubMed Central  PubMed  Google Scholar 

  50. Cusano NE, Rubin MR, Sliney J Jr, Bilezikian JP (2012) Mini-review: new therapeutic options in hypoparathyroidism. Endocrine 41(3):410–414

    Article  PubMed Central  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Dolores M. Shoback MD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Italia

About this chapter

Cite this chapter

Wheeler, A.L., Shoback, D.M. (2015). Clinical Presentation of Hypoparathyroidism. In: Brandi, M., Brown, E. (eds) Hypoparathyroidism. Springer, Milano. https://doi.org/10.1007/978-88-470-5376-2_15

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-5376-2_15

  • Published:

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-5375-5

  • Online ISBN: 978-88-470-5376-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics