Hypoparathyroidism causes: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
Line 26: Line 26:
***Iron overload<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref>
***Iron overload<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref>
****[[Hemochromatosis]]
****[[Hemochromatosis]]
****[[Thalassemia]] (due to repeated [[blood transfusion]])
****[[Thalassemia]] (due to repeated [[blood transfusion]]) <ref name="pmid16502121">{{cite journal |vauthors=Angelopoulos NG, Goula A, Rombopoulos G, Kaltzidou V, Katounda E, Kaltsas D, Tolis G |title=Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia |journal=J. Bone Miner. Metab. |volume=24 |issue=2 |pages=138–45 |year=2006 |pmid=16502121 |doi=10.1007/s00774-005-0660-1 |url=}}</ref>
***Copper overload<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref>
***Copper overload<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref>
****Wilson's disease
****Wilson's disease

Revision as of 21:17, 20 September 2017

Hypoparathyroidism Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hypoparathyroidism from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hypoparathyroidism causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hypoparathyroidism causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hypoparathyroidism causes

CDC on Hypoparathyroidism causes

Hypoparathyroidism causes in the news

Blogs on Hypoparathyroidism causes

Directions to Hospitals Treating Hypoparathyroidism

Risk calculators and risk factors for Hypoparathyroidism causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Causes

Life Threatening Causes

Life threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. Life threatening cause for hypoparathyroidism incude:

  • Metastatic disease to parathyroid glands

Common Causes

  • Post-surgical (most common cause)[1]
  • Autoimmune (2nd most common cause)[2]
    • Polyglandular autoimmune syndrome type 1
      • Also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or acquired hypoparathyroidism associated with autoimmune hypothyroidism
    • Isolated autoimmune hypoparathyroidism

Less Common Causes

  • Infiltration and/or destruction of parathyroid glands
    • Metal overload
    • Radiation-induced destruction parathyroid glands[8]
    • Hypomagnesemia[9]
    • Metastatic cancer[10][11]
    • Granulomas infiltrating parathyroid glands[12]
    • Amyloid deposition in all four parathyroid gland[13]
    • Infections
  • Maternal hyperparathyroidism[16]
  • Genetic causes

Genetic Causes

  • Isolated hypoparathyroidism
    • Autosomal dominant
      • Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation[17]
      • Autosomal dominant familial isolated hypoparathyroidism caused by caused by glial cells missing 2 (GCM2) gene mutation - Dominant negative effect[18]
      • Autosomal dominant hypocalcemia[19]
        • Autosomal dominant hypocalcemia type 1
          • Calcium-sensing activating mutation
          • Most common genetic form of hypoparathyroidism
          • Also known as familial hypercalciuric hypocalcemia
          • The activating mutation results in gain in function
          • Calcium-sensing receptor gene activating mutation can also cause Bartter syndrome type 5.This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.[20][21]
        • Autosomal dominant hypocalcemia type 2
          • G protein G11 (GNA11) mutation
    • Autosomal recessive
      • Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation[22]
      • Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation[23][18]
    • X-linked
      • X-linked recessive hypoparathyroidism
        • Caused by mutation in gene variant FHL1 (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.[24]
  • Congenital multisystem syndromes
    • DiGeorge syndrome[25]
      • Autosomal dominant disorder
      • Presents with thymus dysfunction, cardiac diseases, immunodeficiency, hypocalcemia, and other clinical problems
      • Caused by 22q11.2 deletion
      • Also known as 22q11.2DS, autosomal dominant Opitz G/BBB syndrome, CATCH 22 Syndromes, Cayler cardiofacial syndrome, conotruncal anomaly face syndrome (CTAF), deletion 22q11.2 syndrome, Sedlackova syndrome, Shprintzen syndrome, VCFS, velocardiofacial syndrome, and velo-cardio-facial syndrome.
      • CATCH 22 stands for cardiac, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia with 22q deletion
    • CHARGE syndrome[26]
      • Autosomal dominant disorder
      • Presents with coloboma, heart defects, atresia choanae, retarded growth and development, genitourinary abnormalities, and ear anomalies and/or deafness.
      • Caused by CHD7 G744S missense mutation
    • Kenny-Caffey syndrome[27]
      • Autosomal recessive inheritence
      • Deletion of the TBCE gene responsible for encoding a protein that participates in beta-tubulin folding.
      • Presents with hypoparathyroidism due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones)
    • Sanjad-Sakati syndrome[28]
      • Sanjad-Sakati syndrome in exclusively found in arabian descent popultion.
      • Autosomal recessive disorder
      • Mutation in TBCE gene.
      • Presents with hypoparathyroidism, intellectual disability, dysmorphism
    • Barakat syndrome[29][30]
      • Autosomal recessive inheritance
      • Mutations in the GATA3 gene
      • Also known as hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
      • Presents with primary hypoparathyroidism, nerve deafness, steroid-resistant nephrosis

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect No underlying causes
Ear Nose Throat No underlying causes
Endocrine Abnormal parathyroid gland development, Abnormal pth synthesis, Addison's disease, Adenylyl cyclase dysfunction  , Autoimmune polyendocrine syndrome, Autoimmune polyendocrinopathy syndrome, Autoimmune polyglandular syndrome , Autosomal dominant hypocalcemia , Calcium-sensing receptor activation, Congenital lack of parathyroid glands, Fahr disease, Hungry bone syndrome , Parathyroid inflammation, Parathyroid surgery, Pituitary iron overload , Pituitary metastasis, Polyendocrine deficiency syndrome , Polyglandular autoimmune syndrome  , Primary adrenal insufficiency, Radical neck dissection, Thyroid surgery , Thyroidectomy
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic 22q11.2 deletion syndrome  , Alport syndrome  , Autosomal dominant hypocalcemia , Bangstad syndrome  , Barakat syndrome  , Bird-headed dwarfism , Chromosome 10, monosomy 10p, Chromosome 10p deletion syndrome, Chromosome 22q deletion syndrome  , Chromosome 22q deletion  , Congenital lack of parathyroid glands, Dahlberg syndrome  , Deletion 10pter  , Digeorge syndrome, Fahr disease, Genetic disorders, Kenny-caffey-linarelli syndrome, Velocardiofacial syndrome 
Hematologic Hemochromatosis  , Hemosiderosis, Hypomagnesemia, Magnesium deficiency,
Iatrogenic Parathyroidectomy, Radiation, Radical neck dissection, Thyroidectomy
Infectious Disease Hiv ,
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary No underlying causes
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

The unnamed parameter 2= is no longer supported. Please see the documentation for {{columns-list}}.
3

References

  1. Marx SJ (2000). "Hyperparathyroid and hypoparathyroid disorders". N. Engl. J. Med. 343 (25): 1863–75. doi:10.1056/NEJM200012213432508. PMID 11117980.
  2. Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
  3. Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC (2014). "Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis". Endocrinol Metab (Seoul). 29 (1): 91–5. doi:10.3803/EnM.2014.29.1.91. PMC 3970271. PMID 24741460.
  4. Angelopoulos NG, Goula A, Rombopoulos G, Kaltzidou V, Katounda E, Kaltsas D, Tolis G (2006). "Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia". J. Bone Miner. Metab. 24 (2): 138–45. doi:10.1007/s00774-005-0660-1. PMID 16502121.
  5. Carpenter TO, Carnes DL, Anast CS (1983). "Hypoparathyroidism in Wilson's disease". N. Engl. J. Med. 309 (15): 873–7. doi:10.1056/NEJM198310133091501. PMID 6888480.
  6. Burnatowska-Hledin MA, Kaiser L, Mayor GH (1983). "Aluminum, parathyroid hormone, and osteomalacia". Spec Top Endocrinol Metab. 5: 201–26. PMID 6422572.
  7. Navarro JF, Mora C, Jiménez A, Torres A, Macía M, García J (1999). "Relationship between serum magnesium and parathyroid hormone levels in hemodialysis patients". Am. J. Kidney Dis. 34 (1): 43–8. doi:10.1053/AJKD03400043. PMID 10401014.
  8. Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV (2016). "Epidemiology and Diagnosis of Hypoparathyroidism". J. Clin. Endocrinol. Metab. 101 (6): 2284–99. doi:10.1210/jc.2015-3908. PMC 5393595. PMID 26943720.
  9. Strzelczyk E, Donderski W, Lewosz W (1972). "Occurrence of microorganisms capable of decomposing organic phosphorus compounds in two types of bottom sediments of the eutrophic lake Jeziorak". Acta Microbiol Pol B. 4 (3): 101–10. PMID 4566842.
  10. Tandon PK, Rizvi AA (2005). "Hypocalcemia and parathyroid function in metastatic prostate cancer". Endocr Pract. 11 (4): 254–8. doi:10.4158/EP.11.4.254. PMID 16006299.
  11. Watanabe T, Adachi I, Kimura S, Yamaguchi K, Suzuki M, Shimada A, Abe K (1983). "A case of advanced breast cancer associated with hypocalcemia". Jpn. J. Clin. Oncol. 13 (2): 441–8. PMID 6887561.
  12. Abate EG, Clarke BL (2016). "Review of Hypoparathyroidism". Front Endocrinol (Lausanne). 7: 172. doi:10.3389/fendo.2016.00172. PMC 5237638. PMID 28138323.
  13. Picken, Maria (2015). "Chapter 7: The Parathyroid". Amyloid and related disorders : surgical pathology and clinical correlations. New York: Humana Press. p. 151. ISBN 978-3319192932.
  14. Becker, Kenneth (2001). "Chapter 60: Hypoparathyroidism and Other Causes of Hypocalcemia". Principles and practice of endocrinology and metabolism. Philadelphia London: Lippincott Williams & Wilkins. p. 592. ISBN 978-0781717502.
  15. Kuehn EW, Anders HJ, Bogner JR, Obermaier J, Goebel FD, Schlöndorff D (1999). "Hypocalcaemia in HIV infection and AIDS". J. Intern. Med. 245 (1): 69–73. PMID 10095819.
  16. Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P (2008). "Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism". Eur. J. Pediatr. 167 (4): 431–4. doi:10.1007/s00431-007-0528-6. PMID 17569990.
  17. Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM (1990). "Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism". J. Clin. Invest. 86 (4): 1084–7. doi:10.1172/JCI114811. PMC 296835. PMID 2212001.
  18. 18.0 18.1 Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN (2009). "Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism". Hum. Mutat. 30 (1): 85–92. doi:10.1002/humu.20827. PMID 18712808.
  19. Roszko KL, Bi RD, Mannstadt M (2016). "Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2". Front Physiol. 7: 458. doi:10.3389/fphys.2016.00458. PMC 5067375. PMID 27803672.
  20. Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L (2006). "Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome". J. Nephrol. 19 (4): 525–8. PMID 17048213.
  21. Choi KH, Shin CH, Yang SW, Cheong HI (2015). "Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C". Korean J Pediatr. 58 (4): 148–53. doi:10.3345/kjp.2015.58.4.148. PMC 4414630. PMID 25932037.
  22. Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S (1999). "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism". J. Clin. Endocrinol. Metab. 84 (10): 3792–6. doi:10.1210/jcem.84.10.6070. PMID 10523031.
  23. Ding C, Buckingham B, Levine MA (2001). "Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB". J. Clin. Invest. 108 (8): 1215–20. doi:10.1172/JCI13180. PMC 209530. PMID 11602629.
  24. Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N (2017). "A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism". Hum. Genet. 136 (7): 835–845. doi:10.1007/s00439-017-1804-9. PMC 5487855. PMID 28444561.
  25. Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM (2010). "DiGeorge Syndrome: a not so rare disease". Clinics (Sao Paulo). 65 (9): 865–9. PMC 2954737. PMID 21049214.
  26. Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E (2011). "Unique phenotype in a patient with CHARGE syndrome". Int J Pediatr Endocrinol. 2011: 11. doi:10.1186/1687-9856-2011-11. PMC 3216247. PMID 21995344.
  27. Metwalley KA, Farghaly HS (2012). "Kenny-Caffey syndrome type 1 in an Egyptian girl". Indian J Endocrinol Metab. 16 (5): 827–9. doi:10.4103/2230-8210.100645. PMC 3475915. PMID 23087875.
  28. Rafique B, Al-Yaarubi S (2010). "Sanjad-Sakati Syndrome in Omani children". Oman Med J. 25 (3): 227–9. doi:10.5001/omj.2010.63. PMC 3191633. PMID 22043344.
  29. Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001). "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome". J. Med. Genet. 38 (6): 374–80. PMC 1734904. PMID 11389161.
  30. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000). "GATA3 haplo-insufficiency causes human HDR syndrome". Nature. 406 (6794): 419–22. doi:10.1038/35019088. PMID 10935639.

Template:WS Template:WH