Hypoparathyroidism causes
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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
Most common cause for hypoparathyroidism is post-surgical including thyroidectomy, parathyroidectomy, and radical neck dissection. Second most common cause for hypoparathyroidism including polyglandular autoimmune syndrome type 1 and isolated autoimmune hypoparathyroidism. Less common causes of hypoparathyroidism includes infiltration and/or destruction of parathyroid glands and genetic causes. Most common genetic cause of hypoparathyroidism is calcium-sensing receptor gene activating mutation.
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 cancer 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
- Polyglandular autoimmune syndrome type 1
Less Common Causes
- Infiltration and/or destruction of parathyroid glands
- Metal overload
- Iron overload[3]
- Hemochromatosis
- Thalassemia (due to repeated blood transfusion) [4]
- Copper overload[5]
- Aluminium deposition[6]
- Usually seen in patients with end-stage renal disease on hemodialysis
- Hypermagnesemia[7]
- Iron overload[3]
- Radiation-induced destruction parathyroid glands[8]
- Hypomagnesemia[9]
- Metastatic cancer to parathyroid glands including:[10][11]
- Granulomas infiltrating parathyroid glands[12]
- Amyloid deposition in all four parathyroid gland[13]
- Infections
- Metal overload
- Maternal hyperparathyroidism leading to neonatal hypoparathyroidism[16]
- Genetic causes
Genetic Causes
- Isolated hypoparathyroidism
- Autosomal dominant inheritence
- Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation[17]
- Autosomal dominant familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation[18]
- Autosomal dominant hypocalcemia[19]
- Autosomal dominant hypocalcemia type 1
- Calcium-sensing receptor gene 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 dominant hypocalcemia type 1
- Autosomal recessive inheritence
- 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 inheritence
- Autosomal dominant inheritence
- Congenital multisystem syndromes
- DiGeorge syndrome[25]
- Autosomal dominant inheritance pattern in present.
- Presents with thymus dysfunction, cardiac defects, immunodeficiency, hypocalcemia, and other clinical problems.
- Caused by 22q11.2 deletion.
- Also known as 22q11.2DS, CATCH 22 syndrome, 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 defects, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia with 22q11.2 deletion.
- CHARGE syndrome[26]
- Autosomal dominant inheritance pattern in present.
- 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 inheritance pattern in present.
- 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 population.
- Autosomal recessive inheritance pattern in present.
- Mutation in TBCE gene.
- Presents with hypoparathyroidism, intellectual disability, dysmorphism.
- Barakat syndrome[29][30]
- DiGeorge syndrome[25]
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 | Polyglandular autoimmune syndrome type 1, Isolated autoimmune hypoparathyroidism |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | Wilson's disease, Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation, Autosomal dominant familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation, Autosomal dominant hypocalcemia type 1, Autosomal dominant hypocalcemia type 2, Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation, Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation, X-linked recessive familial isolated hypoparathyroidism hypoparathyroidism,22q11.2 deletion syndrome, DiGeorge syndrome, 22q11.2DS, CATCH 22 syndrome, Cayler cardiofacial syndrome, conotruncal anomaly face syndrome (CTAF), deletion 22q11.2 syndrome, Sedlackova syndrome, Shprintzen syndrome, VCFS, velocardiofacial syndrome, velo-cardio-facial syndrome, CHARGE syndrome, Kenny-Caffey syndrome, Sanjad-Sakati syndrome, Barakat syndrome, [[Chromosome 10, monosomy 10p],Chromosome 10p deletion syndrome, Chromosome 22q deletion syndrome , and Chromosome 22q deletion . |
| Hematologic | Hemochromatosis, Thalassemia |
| Iatrogenic | Parathyroidectomy, Radiation-induced parathyroid destruction, Radical neck dissection, Thyroidectomy |
| Infectious Disease | HIV infection, syphilis |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | Maternal hyperparathyroidism leading to neonatal hypoparathyroidism |
| Oncologic | Metastatic prostate cancer, metastatic breast cancer |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | Aluminium deposition due to end-stage renal disease on hemodialysis, Hypermagnesemia, Hypomagnesemia |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | Granulomas infiltrating parathyroid glands, Amyloid deposition in all four parathyroid gland |
Causes in Alphabetical Order
{{columns-list|3|
- 22q11.2DS
- 22q11.2 deletion syndrome
- Aluminium deposition due to end-stage renal disease on hemodialysis, Hypermagnesemia, Hypomagnesemia
- Amyloid deposition in all four parathyroid gland
- Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation
- Autosomal dominant familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation
- Autosomal dominant hypocalcemia type 1
- Autosomal dominant hypocalcemia type 2
- Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation
- Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation
- Barakat syndrome
- CATCH 22 syndrome
- Cayler cardiofacial syndrome
- CHARGE syndrome
- [[Chromosome 10, monosomy 10p]
- Chromosome 10p deletion syndrome
- Chromosome 22q deletion syndrome
- Chromosome 22q deletion
- Conotruncal anomaly face syndrome (CTAF)
- Deletion 22q11.2 syndrome
- DiGeorge syndrome
- Hemochromatosis
- HIV infection
- Granulomas infiltrating parathyroid glands
- Isolated autoimmune hypoparathyroidism
- Kenny-Caffey syndrome
- Maternal hyperparathyroidism leading to neonatal hypoparathyroidism
- Metastatic prostate cancer
- Metastatic breast cancer
- Parathyroidectomy
- Polyglandular autoimmune syndrome type 1
- Radiation-induced parathyroid destruction
- Radical neck dissection
- Sanjad-Sakati syndrome
- Sedlackova syndrome
- Shprintzen syndrome
- Syphilis
- Thalassemia
- Thyroidectomy
- VCFS
- velocardiofacial syndrome
- velo-cardio-facial syndrome
- Wilson's disease
- X-linked recessive familial isolated hypoparathyroidism hypoparathyroidism
}}
References
- ↑ Marx SJ (2000). "Hyperparathyroid and hypoparathyroid disorders". N. Engl. J. Med. 343 (25): 1863–75. doi:10.1056/NEJM200012213432508. PMID 11117980.
- ↑ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Burnatowska-Hledin MA, Kaiser L, Mayor GH (1983). "Aluminum, parathyroid hormone, and osteomalacia". Spec Top Endocrinol Metab. 5: 201–26. PMID 6422572.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Abate EG, Clarke BL (2016). "Review of Hypoparathyroidism". Front Endocrinol (Lausanne). 7: 172. doi:10.3389/fendo.2016.00172. PMC 5237638. PMID 28138323.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 18.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.