Hypoparathyroidism causes: Difference between revisions

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==Overview==
==Overview==


Hypothyroidism most commonly occurs as a complication of [[neck]] surgery including [[thyroidectomy]], [[parathyroidectomy]], and radical [[neck dissection]]. Second most common cause for hypoparathyroidism is [[autoimmune]] including [[polyglandular autoimmune syndrome type 1]] and isolated [[autoimmune]] hypoparathyroidism. Less common causes of hypoparathyroidism includes infiltration and/or destruction of [[parathyroid gland]]s and [[genetic]] causes. Most common [[genetic]] cause of hypoparathyroidism is [[calcium-sensing receptor]] [[gene]] activating [[mutation]].


==Causes==
==Causes==
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*'''Autoimmune (2nd most common cause)'''<ref name="pmid15141045">{{cite journal |vauthors=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=}}</ref>
*'''Autoimmune (2nd most common cause)'''<ref name="pmid15141045">{{cite journal |vauthors=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=}}</ref>
**[[Polyglandular autoimmune syndrome type 1]]
**[[Polyglandular autoimmune syndrome type 1]]
***Also known as [[Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy]] ([[APECED syndrome|APECED]]), or acquired hypoparathyroidism associated with autoimmune hypothyroidism
***Also known as [[Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy]] ([[APECED syndrome|APECED]]), or acquired hypoparathyroidism associated with [[autoimmune]] hypothyroidism
**Isolated [[autoimmune]] hypoparathyroidism
**Isolated [[autoimmune]] hypoparathyroidism


===Less Common Causes===
===Less Common Causes===
*Infiltration and/or destruction of parathyroid glands
*Infiltration and/or destruction of [[parathyroid glands]]
**Metal overload
**Metal overload
***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>
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***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]]
***Aluminium deposition<ref name="pmid6422572">{{cite journal |vauthors=Burnatowska-Hledin MA, Kaiser L, Mayor GH |title=Aluminum, parathyroid hormone, and osteomalacia |journal=Spec Top Endocrinol Metab |volume=5 |issue= |pages=201–26 |year=1983 |pmid=6422572 |doi= |url=}}</ref>
***[[Aluminium]] deposition<ref name="pmid6422572">{{cite journal |vauthors=Burnatowska-Hledin MA, Kaiser L, Mayor GH |title=Aluminum, parathyroid hormone, and osteomalacia |journal=Spec Top Endocrinol Metab |volume=5 |issue= |pages=201–26 |year=1983 |pmid=6422572 |doi= |url=}}</ref>
****Usually seen in patients with [[end-stage renal disease]] on [[hemodialysis]]
****Usually seen in patients with [[end-stage renal disease]] on [[hemodialysis]]
***[[Hypermagnesemia]]<ref name="pmid10401014">{{cite journal |vauthors=Navarro JF, Mora C, Jiménez A, Torres A, Macía M, García J |title=Relationship between serum magnesium and parathyroid hormone levels in hemodialysis patients |journal=Am. J. Kidney Dis. |volume=34 |issue=1 |pages=43–8 |year=1999 |pmid=10401014 |doi=10.1053/AJKD03400043 |url=}}</ref>
***[[Hypermagnesemia]]<ref name="pmid10401014">{{cite journal |vauthors=Navarro JF, Mora C, Jiménez A, Torres A, Macía M, García J |title=Relationship between serum magnesium and parathyroid hormone levels in hemodialysis patients |journal=Am. J. Kidney Dis. |volume=34 |issue=1 |pages=43–8 |year=1999 |pmid=10401014 |doi=10.1053/AJKD03400043 |url=}}</ref>
**[[Radiation]]-induced destruction [[Parathyroid gland|parathyroid glands]]<ref name="pmid26943720">{{cite journal |vauthors=Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV |title=Epidemiology and Diagnosis of Hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=101 |issue=6 |pages=2284–99 |year=2016 |pmid=26943720 |pmc=5393595 |doi=10.1210/jc.2015-3908 |url=}}</ref>
**[[Radiation]]-induced destruction [[Parathyroid gland|parathyroid glands]]<ref name="pmid26943720">{{cite journal |vauthors=Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV |title=Epidemiology and Diagnosis of Hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=101 |issue=6 |pages=2284–99 |year=2016 |pmid=26943720 |pmc=5393595 |doi=10.1210/jc.2015-3908 |url=}}</ref>
**[[Hypomagnesemia]]<ref name="pmid4566842">{{cite journal |vauthors=Strzelczyk E, Donderski W, Lewosz W |title=Occurrence of microorganisms capable of decomposing organic phosphorus compounds in two types of bottom sediments of the eutrophic lake Jeziorak |journal=Acta Microbiol Pol B |volume=4 |issue=3 |pages=101–10 |year=1972 |pmid=4566842 |doi= |url=}}</ref>
**[[Hypomagnesemia]]<ref name="pmid26273099">{{cite journal |vauthors=Astor MC, Løvås K, Wolff AS, Nedrebø B, Bratland E, Steen-Johnsen J, Husebye ES |title=Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6 |journal=Endocr Connect |volume=4 |issue=4 |pages=215–22 |year=2015 |pmid=26273099 |pmc=4566842 |doi=10.1530/EC-15-0066 |url=}}</ref>
**[[Metastatic]] cancer to [[Parathyroid gland|parathyroid glands]] including:<ref name="pmid16006299">{{cite journal |vauthors=Tandon PK, Rizvi AA |title=Hypocalcemia and parathyroid function in metastatic prostate cancer |journal=Endocr Pract |volume=11 |issue=4 |pages=254–8 |year=2005 |pmid=16006299 |doi=10.4158/EP.11.4.254 |url=}}</ref><ref name="pmid6887561">{{cite journal |vauthors=Watanabe T, Adachi I, Kimura S, Yamaguchi K, Suzuki M, Shimada A, Abe K |title=A case of advanced breast cancer associated with hypocalcemia |journal=Jpn. J. Clin. Oncol. |volume=13 |issue=2 |pages=441–8 |year=1983 |pmid=6887561 |doi= |url=}}</ref>
**[[Metastatic]] cancer to [[Parathyroid gland|parathyroid glands]] including:<ref name="pmid16006299">{{cite journal |vauthors=Tandon PK, Rizvi AA |title=Hypocalcemia and parathyroid function in metastatic prostate cancer |journal=Endocr Pract |volume=11 |issue=4 |pages=254–8 |year=2005 |pmid=16006299 |doi=10.4158/EP.11.4.254 |url=}}</ref><ref name="pmid6887561">{{cite journal |vauthors=Watanabe T, Adachi I, Kimura S, Yamaguchi K, Suzuki M, Shimada A, Abe K |title=A case of advanced breast cancer associated with hypocalcemia |journal=Jpn. J. Clin. Oncol. |volume=13 |issue=2 |pages=441–8 |year=1983 |pmid=6887561 |doi= |url=}}</ref>
***[[Metastatic]] [[prostate cancer]]
***[[Metastatic]] [[prostate cancer]]
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***[[Syphilis]]<ref>{{cite book | last = Becker | first = Kenneth | title = Principles and practice of endocrinology and metabolism |chapter= Chapter 60: Hypoparathyroidism and Other Causes of Hypocalcemia |page= 592 | publisher = Lippincott Williams & Wilkins | location = Philadelphia London | year = 2001 | isbn = 978-0781717502 }}</ref>
***[[Syphilis]]<ref>{{cite book | last = Becker | first = Kenneth | title = Principles and practice of endocrinology and metabolism |chapter= Chapter 60: Hypoparathyroidism and Other Causes of Hypocalcemia |page= 592 | publisher = Lippincott Williams & Wilkins | location = Philadelphia London | year = 2001 | isbn = 978-0781717502 }}</ref>
***[[HIV AIDS|HIV infection]]<ref name="pmid10095819">{{cite journal |vauthors=Kuehn EW, Anders HJ, Bogner JR, Obermaier J, Goebel FD, Schlöndorff D |title=Hypocalcaemia in HIV infection and AIDS |journal=J. Intern. Med. |volume=245 |issue=1 |pages=69–73 |year=1999 |pmid=10095819 |doi= |url=}}</ref>
***[[HIV AIDS|HIV infection]]<ref name="pmid10095819">{{cite journal |vauthors=Kuehn EW, Anders HJ, Bogner JR, Obermaier J, Goebel FD, Schlöndorff D |title=Hypocalcaemia in HIV infection and AIDS |journal=J. Intern. Med. |volume=245 |issue=1 |pages=69–73 |year=1999 |pmid=10095819 |doi= |url=}}</ref>
*Maternal [[hyperparathyroidism]] leading to neonatal hypoparathyroidism<ref name="pmid17569990">{{cite journal |vauthors=Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P |title=Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism |journal=Eur. J. Pediatr. |volume=167 |issue=4 |pages=431–4 |year=2008 |pmid=17569990 |doi=10.1007/s00431-007-0528-6 |url=}}</ref>
*Maternal [[hyperparathyroidism]] leading to [[neonatal]] hypoparathyroidism<ref name="pmid17569990">{{cite journal |vauthors=Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P |title=Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism |journal=Eur. J. Pediatr. |volume=167 |issue=4 |pages=431–4 |year=2008 |pmid=17569990 |doi=10.1007/s00431-007-0528-6 |url=}}</ref>
*[[Genetics|Genetic]] causes
*[[Genetics|Genetic]] causes


===Genetic Causes===
===Genetic Causes===
*'''Autoimmune'''
**'''Autoimmune polyglandular hypoparathyroidism'''
***Autoimmune polyglandular endocrinopathy type 1: [[Mutation]] in AIRE [[gene]]<ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref>
*'''Isolated hypoparathyroidism'''
*'''Isolated hypoparathyroidism'''
**'''Autosomal dominant inheritence'''
**'''Autosomal dominant inheritence'''
***[[Autosomal dominant]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
***[[Autosomal dominant]] familial isolated hypoparathyroidism caused by [[Parathyroid hormone|PTH]] [[gene mutation]]<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
***[[Autosomal dominant inheritance|Autosomal dominant]] familial isolated hypoparathyroidism caused by caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>  
***[[Autosomal dominant inheritance|Autosomal dominant]] familial isolated hypoparathyroidism caused by [[glial cells]] missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>  
****[[Dominant negative mutation]]
***[[Autosomal dominant hypocalcemia]]<ref name="pmid27803672">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
***[[Autosomal dominant hypocalcemia]]<ref name="pmid27803672">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
****[[Autosomal dominant hypocalcemia]] type 1
****[[Autosomal dominant hypocalcemia]] type 1 ('''Most common genetic form): [[Calcium-sensing receptor|Calcium-sensing]] receptor [[gene]] activating [[mutation]].'''
*****[[Calcium-sensing receptor|Calcium-sensing]] activating mutation.
****[[Autosomal dominant hypocalcemia]] type 2 : [[G protein]] G11 (GNA11) [[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.<ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref>
****[[Autosomal dominant hypocalcemia]] type 2  
*****G protein G11 (GNA11) mutation.
**'''Autosomal recessive inheritence'''
**'''Autosomal recessive inheritence'''
***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref><ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref><ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
**'''X-linked inheritence'''
**'''X-linked inheritence'''
***X-linked recessive familial isolated hypoparathyroidism  
***X-linked recessive familial isolated hypoparathyroidism : [[Mutation]] in [[gene]] variant [[FHL1 (gene)|FHL1]] ([[exon]] 4, c.C283T, p.R95W) on [[chromosome]] [[locus]] Xq26-q27.<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
****Caused by mutation in [[gene]] variant [[FHL1 (gene)|FHL1]] (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
*'''Congenital multisystem syndromes'''
*'''Congenital multisystem syndromes'''
**'''[[DiGeorge syndrome]]'''<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
**[[DiGeorge syndrome]]:  [[22q11.2 deletion syndrome|22q11.2 deletion]]<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
***[[Autosomal dominant inheritance]] pattern in present.
**[[CHARGE syndrome]]: CHD7 G744S [[missense mutation]]<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
***Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
**[[Kenny-Caffey syndrome type 1]]: Deletion of the [[TBCE]] [[gene]]<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
***Caused by [[22q11.2 deletion syndrome|22q11.2 deletion]].
**[[Kenny-Caffey syndrome type 2]]: Mutation of FAM111A [[gene]]<ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref>
***Also known as [[22q11.2DS]], autosomal dominant Opitz G/BBB syndrome, [[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.
**[[Sanjad-Sakati syndrome]]: Mutation in [[TBCE]] [[gene]]<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
***[[CATCH 22 syndrome|CATCH 22]] stands for [[cardiac]] defects, abnormal facies, [[thymic]] [[aplasia]], [[cleft palate]], and [[hypocalcemia]] with [[22q11.2 deletion syndrome|22q11.2 deletion]].
**[[Barakat syndrome]]: [[Mutation|Mutations]] in the [[GATA3]] [[gene]]<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=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 |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
**'''[[CHARGE syndrome]]'''<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
*'''Metabolic diseases'''
***[[Autosomal dominant inheritance]] pattern in present.
**[[Mitochondrial]] [[polyneuropathies]]<ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref>
***Presents with [[coloboma]], [[heart]] defects, [[Choanal atresia|atresia choanae]], retarded growth and development, [[Genitourinary pathology|genitourinary abnormalities]], and [[ear]] anomalies and/or [[deafness]].
***[[Kearns–Sayre syndrome]]
***Caused by CHD7 G744S [[missense mutation]].
***[[Maternally inherited diabetes and deafness (MIDD)]]
**'''Kenny-Caffey syndrome'''<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
**[[Mitochondrial]] [[enzyme]] deficiencies
***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
***[[Mitochondrial trifunctional protein deficiency]] ([[MTP deficiency]])<ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref>
***Deletion of the [[TBCE]] gene responsible for encoding a protein that participates in beta-tubulin folding.
***[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] ([[LCHAD deficiency]])<ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref>
***Presents with [[hypoparathyroidism]] due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
**Heavy metal storage disorders
**'''Sanjad-Sakati syndrome'''<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
***[[Hemochromatosis]]<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>
***Sanjad-Sakati syndrome in exclusively found in arabian descent population.
***[[Wilson's disease]]<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>
***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
***Mutation in [[TBCE]] gene.
***Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
**'''[[Barakat syndrome]]'''<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=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 |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
***[[Mutation|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===
===Causes by Organ System===
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|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Genetic'''
| '''Genetic'''
| bgcolor="Beige" |[[Wilson's disease]], [[Autosomal dominant]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]], [[Autosomal dominant inheritance|Autosomal dominant]] familial isolated hypoparathyroidism caused by 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, [[DiGeorge syndrome]], [[22q11.2DS]], autosomal dominant Opitz G/BBB syndrome, [[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, [[CATCH 22 syndrome|CATCH 22]], [[CHARGE syndrome]], Kenny-Caffey syndrome, Sanjad-Sakati syndrome, and [[Barakat syndrome]]
| bgcolor="Beige" |[[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 type 1]], [[Kenny-Caffey syndrome type 2]], [[Sanjad-Sakati syndrome]], [[Barakat syndrome]], [[[[Chromosome 10 (human)|chromosome 10]], [[monosomy]] 10p], and chromosome 10p deletion syndrome, [[Kearns–Sayre syndrome]], [[maternally inherited diabetes and deafness (MIDD)]], [[mitochondrial trifunctional protein deficiency]] ([[MTP deficiency]]), [[long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] ([[LCHAD deficiency]]),
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
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|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Iatrogenic'''
| '''Iatrogenic'''
| bgcolor="Beige" |  [[Parathyroidectomy]], [[Radiation]]-induced parathyroid destruction, Radical [[neck dissection]], [[Thyroidectomy]]
| bgcolor="Beige" |  [[Parathyroidectomy]], [[radiation]]-induced [[Parathyroid gland|parathyroid]] destruction, radical [[neck dissection]], [[thyroidectomy]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
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|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Obstetric/Gynecologic'''
| '''Obstetric/Gynecologic'''
| bgcolor="Beige" | Maternal [[hyperparathyroidism]] leading to neonatal hypoparathyroidism
| bgcolor="Beige" | [[Maternal]] [[hyperparathyroidism]] leading to [[neonatal]] hypoparathyroidism
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
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|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Miscellaneous'''
| '''Miscellaneous'''
| bgcolor="Beige" |[[Granulomas]] infiltrating [[Parathyroid gland|parathyroid glands]], [[Amyloid]] deposition in all four [[parathyroid gland]]
| bgcolor="Beige" |[[Granulomas]] infiltrating [[Parathyroid gland|parathyroid glands]], [[amyloid]] deposition in all four [[parathyroid gland]]
|-
|-
|}
|}


===Causes in Alphabetical Order===
===Causes in Alphabetical Order===
{{columns-list|3|
{{columns-list|
*[[22q11.2 deletion syndrome ]]
*[[22q11.2DS]]
*[[Abnormal parathyroid gland development]]
*[[22q11.2 deletion syndrome]]
*[[Abnormal pth synthesis]]
*Aluminium deposition due to [[end-stage renal disease]] on [[hemodialysis]], [[Hypermagnesemia]], [[Hypomagnesemia]]
*[[Addison's disease]]
*[[Amyloid]] deposition in all four [[parathyroid gland]]
*[[Adenylyl cyclase dysfunction ]]
*[[Autosomal dominant]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]
*[[Alport syndrome ]]
*[[Autosomal dominant]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]
*[[Ataxia ]]
*[[Autosomal dominant hypocalcemia]] type 1
*[[Autoimmune polyendocrine syndrome]]
*[[Autosomal dominant hypocalcemia]] type 2
*[[Autoimmune polyendocrinopathy syndrome]]
*[[Autosomal recessive]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]
*[[Autoimmune polyglandular syndrome ]]
*[[Autosomal recessive]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]
*[[Autosomal dominant hypocalcemia ]]
*[[Barakat syndrome]]
*[[Autosomal dominant hypoparathyroidism]]
*[[CATCH 22 syndrome]]
*[[Bangstad syndrome ]]
*[[Cayler cardiofacial syndrome]]
*[[Barakat syndrome ]]
*[[CHARGE syndrome]]
*[[Bilateral abductor vocal cord paralysis syndrome ]]
*Chromosome 10, monosomy 10p
*[[Bird-headed dwarfism ]]
*Chromosome 10p deletion syndrome
*[[Calcium-sensing receptor activation]]
*[[Carcinoma]]
*[[Chromosome 10, monosomy 10p]]
*[[Chromosome 10p deletion syndrome]]
*[[Chromosome 22q deletion syndrome ]]
*[[Chromosome 22q deletion ]]
*[[Chromosome 22q deletion ]]
*[[Chronic mucocutaneous candidiasis]]
*[[Conotruncal anomaly face syndrome]] ([[CTAF]])
*[[Congenital lack of parathyroid glands]]
*[[Deletion 22q11.2 syndrome]]
*[[Dahlberg syndrome ]]
*[[DiGeorge syndrome]]
*[[Deletion 10pter ]]
*[[Digeorge syndrome]]
*[[Dubowitz syndrome]]
*[[Fahr disease]]
*[[Genetic disorders]]
*[[Hemochromatosis]]
*[[Hemochromatosis]]
*[[Hemosiderosis]]
*[[Hiv |HIV infection]]
*[[Hiv ]]
*[[Granulomas]] infiltrating [[Parathyroid gland|parathyroid glands]]
*[[Hungry bone syndrome ]]
*Isolated [[autoimmune]] hypoparathyroidism
*[[Hypomagnesemia]]
*[[Kenny-Caffey syndrome type 1]]
*[[Idiopathic ]]
*[[Kenny-Caffey syndrome type 2]]
*[[Kenny-caffey-linarelli syndrome]]
*[[Kearns–Sayre syndrome]]
*[[Magnesium deficiency]]
*[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] ([[LCHAD deficiency]])
*[[Parathyroid inflammation]]
*Maternal [[hyperparathyroidism]] leading to neonatal hypoparathyroidism
*[[Parathyroid surgery]]
*[[Maternally inherited diabetes and deafness (MIDD)]]
*[[Parathyroidectomy]]
*[[Metastatic]] [[prostate cancer]]  
*[[Pituitary iron overload ]]
*[[Metastatic]] [[breast cancer]]
*[[Pituitary metastasis]]
*[[Mitochondrial trifunctional protein deficiency]] ([[MTP deficiency]])
*[[Polyendocrine deficiency syndrome ]]
*[[Parathyroidectomy]]  
*[[Polyglandular autoimmune syndrome ]]
*[[Polyglandular autoimmune syndrome type 1]]
*[[Primary adrenal insufficiency]]
*[[Radiation]]-induced parathyroid destruction
*[[Radiation]]
*Radical [[neck dissection]]
*[[Radical neck dissection]]
*[[Sanjad-Sakati syndrome]]
*[[Radioactive iodine treatment]]
*[[Sedlackova syndrome]]
*[[Sanjad-sakati syndrome]]
*[[Shprintzen syndrome]]
*[[Thyroid surgery ]]
*[[Syphilis]]
*[[Thyroidectomy ]]
*[[Thalassemia]]
*[[Velocardiofacial syndrome ]]
*[[Thyroidectomy]]
*[[Velocardiofacial syndrome|VCFS]]
*[[Velocardiofacial syndrome]]
*[[Velocardiofacial syndrome|Velo-cardio-facial syndrome]]
*[[Wilson's disease]]
*X-linked recessive familial isolated hypoparathyroidism hypoparathyroidism
}}
}}


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{{Reflist|2}}
{{Reflist|2}}


[[Category:Endocrinology]]


{{WS}}
{{WS}}
{{WH}}
{{WH}}
[[Category:Disease]]
[[Category:Medicine]]
[[Category:Endocrinology]]
[[Category:Parathyroid disorders]]
[[Category:Up-To-Date]]
[[Category:Primary care]]

Revision as of 21:21, 10 January 2020

Hypoparathyroidism Microchapters

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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

Hypothyroidism most commonly occurs as a complication of neck surgery including thyroidectomy, parathyroidectomy, and radical neck dissection. Second most common cause for hypoparathyroidism is autoimmune 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:

Common Causes

Less Common Causes

Genetic Causes

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 type 1, Kenny-Caffey syndrome type 2, Sanjad-Sakati syndrome, Barakat syndrome, [[chromosome 10, monosomy 10p], and chromosome 10p deletion syndrome, Kearns–Sayre syndrome, maternally inherited diabetes and deafness (MIDD), mitochondrial trifunctional protein deficiency (MTP deficiency), long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency),
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

References

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  2. Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
  3. 3.0 3.1 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. 5.0 5.1 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. Astor MC, Løvås K, Wolff AS, Nedrebø B, Bratland E, Steen-Johnsen J, Husebye ES (2015). "Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6". Endocr Connect. 4 (4): 215–22. doi:10.1530/EC-15-0066. PMC 4566842. PMID 26273099.
  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. Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.
  18. 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.
  19. 19.0 19.1 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.
  20. 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.
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  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S (2014). "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2". J. Bone Miner. Res. 29 (4): 992–8. doi:10.1002/jbmr.2091. PMID 23996431.
  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.
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