Skip to main content
SpringerLink
Log in

Hypoparathyroidism in Mitochondrial Disorders

  • Chapter
  • First Online:
Hypoparathyroidism

  • 1239 Accesses

Abstract

Mitochondrial diseases are a group of disorders caused by impairment of the mitochondrial respiratory chain. The genetic defect can be located on mitochondrial or nuclear DNA. Phenotypes are polymorphous and may range from pure myopathy to multisystem disorders, with variable age at onset, severity, and progression.

Many physicians, including many general endocrinologists and pediatricians with no specific interest in metabolic disorders, do not have in-depth knowledge of these diseases because of their rarity and complexity. However, in fact they are one of the most common groups of genetic metabolic disorders. In consideration of the frequent multisystem involvement, a wide range of medical specialists (including endocrinologists, pediatricians, neurologists, internists, general practitioners, cardiologists, audiologists, ophthalmologists, etc.) may first encounter these patients. An acute “clinical awareness” about this diagnosis is needed in order to initiate the correct diagnostic workup.

Possible metabolic/endocrine disturbances in patients with mitochondrial disorders include (but are not limited to) diabetes mellitus, hypothyroidism, hypogonadism, short stature, lactic acidosis, and multiple lipomatosis. Rarely, mitochondrial diseases may present with hypoparathyroidism. In this chapter, after a general overview on the basic concepts of the “mitochondrial medicine,” we review mitochondrial hypoparathyroidism, which in most cases is due to sporadic large-scale rearrangements of mitochondrial DNA.

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

Access this chapter

Log in via an institution
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. DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348(26):2656–2668. doi:10.1056/NEJMra022567348/26/2656 [pii]

    Article  CAS  PubMed  Google Scholar 

  2. Filosto M, Mancuso M (2007) Mitochondrial diseases: a nosological update. Acta Neurol Scand 115(4):211–221. doi:10.1111/j.1600-0404.2006.00777.x, ANE777 [pii]

    Article  CAS  PubMed  Google Scholar 

  3. Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM (2008) Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63(1):35–39. doi:10.1002/ana.21217

    Article  CAS  PubMed  Google Scholar 

  4. Mancuso M, Orsucci D, Coppede F, Nesti C, Choub A, Siciliano G (2009) Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker. Curr Mol Med 9(9):1095–1107. doi:CMM#03 [pii]

    Article  CAS  PubMed  Google Scholar 

  5. Mancuso M, Orsucci D, Filosto M, Simoncini C, Siciliano G (2012) Drugs and mitochondrial diseases: 40 queries and answers. Expert Opin Pharmacother. doi:10.1517/14656566.2012.657177

    PubMed  Google Scholar 

  6. DiMauro S, Tay S, Mancuso M (2004) Mitochondrial encephalomyopathies: diagnostic approach. Ann N Y Acad Sci 1011:217–231

    Article  CAS  PubMed  Google Scholar 

  7. Kitano A, Nishiyama S, Miike T, Hattori S, Ohtani Y, Matsuda I (1986) Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debre syndrome. Brain Dev 8(3):289–295

    Article  CAS  PubMed  Google Scholar 

  8. Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S (1991) Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann Neurol 29(6):680–683. doi:10.1002/ana.410290619

    Article  CAS  PubMed  Google Scholar 

  9. Tulinius MH, Oldfors A, Holme E, Larsson NG, Houshmand M, Fahleson P, Sigstrom L, Kristiansson B (1995) Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions. Eur J Pediatr 154(1):35–42

    Article  CAS  PubMed  Google Scholar 

  10. Isotani H, Fukumoto Y, Kawamura H, Furukawa K, Ohsawa N, Goto Y, Nishino I, Nonaka I (1996) Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol (Oxf) 45(5):637–641

    Article  CAS  Google Scholar 

  11. Wilichowski E, Gruters A, Kruse K, Rating D, Beetz R, Korenke GC, Ernst BP, Christen HJ, Hanefeld F (1997) Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res 41(2):193–200. doi:10.1203/00006450-199704001-01165

    Article  CAS  PubMed  Google Scholar 

  12. Shankar RR, Haider A, Garvey WT, Freidenberg GR (1997) Multiple endocrinopathies in an infant with fatal neurodegenerative disease. Am J Med Genet 69(3):271–279. doi:10.1002/(SICI)1096-8628(19970331)69:3<271::AID-AJMG11>3.0.CO;2-O [pii]

    Article  CAS  PubMed  Google Scholar 

  13. Seneca S, De Meirleir L, De Schepper J, Balduck N, Jochmans K, Liebaers I, Lissens W (1997) Pearson marrow pancreas syndrome: a molecular study and clinical management. Clin Genet 51(5):338–342

    Article  CAS  PubMed  Google Scholar 

  14. Tengan CH, Kiyomoto BH, Rocha MS, Tavares VL, Gabbai AA, Moraes CT (1998) Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. J Clin Endocrinol Metab 83(1):125–129. doi:10.1210/jcem.83.1.4497

    CAS  PubMed  Google Scholar 

  15. Katsanos KH, Elisaf M, Bairaktari E, Tsianos EV (2001) Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Am J Nephrol 21(2):150–153. doi:46239 [pii] 46239

    Article  CAS  PubMed  Google Scholar 

  16. Lee YS, Yap HK, Barshop BA, Rajalingam S, Loke KY (2001) Mitochondrial tubulopathy: the many faces of mitochondrial disorders. Pediatr Nephrol 16(9):710–712. doi:10.1007/s0046710160710

    Article  CAS  PubMed  Google Scholar 

  17. Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO (2006) Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. Eur J Pediatr 165(6):389–391. doi:10.1007/s00431-005-0052-5

    Article  PubMed  Google Scholar 

  18. Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, Assereto S, Stringara S, Minetti C, Santorelli FM, Bruno C (2006) Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. J Child Neurol 21(11):983–985

    Article  PubMed  Google Scholar 

  19. Mihai CM, Catrinoiu D, Toringhibel M, Stoicescu RM, Hancu A (2009) De Toni-Debre-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. J Med Case Rep 3:101. doi:10.1186/1752-1947-3-101

    Article  PubMed Central  PubMed  Google Scholar 

  20. Chae JH, Lim BC, Cheong HI, Hwang YS, Kim KJ, Hwang H (2010) A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy. J Neurol Sci 292(1–2):104–106. doi:10.1016/j.jns.2010.02.006, S0022-510X(10)00063-8 [pii]

    Article  CAS  PubMed  Google Scholar 

  21. Tzoufi M, Makis A, Chaliasos N, Nakou I, Siomou E, Tsatsoulis A, Zikou A, Argyropoulou M, Bonnefont JP, Siamopoulou A (2013) A rare case report of simultaneous presentation of myopathy, Addison’s disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. Eur J Pediatr 172(4):557–561. doi:10.1007/s00431-012-1798-1

    Article  PubMed  Google Scholar 

  22. Abramowicz MJ, Cochaux P, Cohen LH, Vamos E (1996) Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication. J Inherit Metab Dis 19(2):109–111

    Article  CAS  PubMed  Google Scholar 

  23. Papadimitriou A, Hadjigeorgiou GM, Divari R, Papagalanis N, Comi G, Bresolin N (1996) The influence of Coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre Syndrome and hypoparathyroidism. Neuromuscul Disord 6(1):49–53

    Article  CAS  PubMed  Google Scholar 

  24. Hameed R, Raafat F, Ramani P, Gray G, Roper HP, Milford DV (2001) Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease. Postgrad Med J 77(910):523–526

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  25. Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J (1993) A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 2(12):2081–2087

    Article  CAS  PubMed  Google Scholar 

  26. Shigemoto M, Yoshimasa Y, Yamamoto Y, Hayashi T, Suga J, Inoue G, Okamoto M, Jingami H, Tsuda K, Yamamoto T, Yagura T, Oishi M, Tsujii S, Kuzuya H, Nakao K (1998) Clinical manifestations due to a point mutation of the mitochondrial tRNAleu(UUR) gene in five families with diabetes mellitus. Intern Med 37(3):265–272

    Article  CAS  PubMed  Google Scholar 

  27. Tanaka K, Takada Y, Matsunaka T, Yuyama S, Fujino S, Maguchi M, Yamashita S, Yuba I (2000) Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. Intern Med 39(3):249–252

    Article  CAS  PubMed  Google Scholar 

  28. Dionisi-Vici C, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G, Taroni F (1996) Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 129(1):159–162. doi:S0022-3476(96)70206-8 [pii]

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy

    Daniele Orsucci, Gabriele Siciliano & Michelangelo Mancuso

Authors
  1. Daniele Orsucci
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Gabriele Siciliano
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Michelangelo Mancuso
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michelangelo Mancuso .

Editor information

Editors and Affiliations

  1. Unit of Metabolic and Bone Diseases, University of Florence, Florence, Italy

    Maria Luisa Brandi

  2. Division of Endocrinology, Diabetes and Hypertension, Harvard Medical School and Brigham & Women's Hospital, Boston, Massachusetts, USA

    Edward Meigs Brown

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Italia

About this chapter

Cite this chapter

Orsucci, D., Siciliano, G., Mancuso, M. (2015). Hypoparathyroidism in Mitochondrial Disorders. In: Brandi, M., Brown, E. (eds) Hypoparathyroidism. Springer, Milano. https://doi.org/10.1007/978-88-470-5376-2_21

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-5376-2_21

  • 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

Search

Navigation