Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
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! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudohypoparathyroidism''' <ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref>
! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Pseudohypoparathyroidism]]''' <ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref>
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1a'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1a'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*[[Genetic defect]] causing end [[Organ (biology)|organ]] resistance to the action of [[parathyroid hormone]] (PTH).
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating mutations that reduce expression or function of Gα<sub>s</sub>
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>
*Genetic mutation disrupts both receptor-mediated activation of adenylyl cyclase and receptor-independent activation of the enzyme.
*[[Genetic mutation]] disrupts both receptor-mediated activation of [[adenylyl cyclase]] and receptor-independent activation of the enzyme.
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' 1,25 Dihydroxy vitamin D
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* '''↓''' Urinary cAMP
* '''↓''' [[CAMP|Urinary cAMP]]
* '''↓''' Urinary phosphate
* '''↓''' [[Phosphate|Urinary phosphate]]
|-
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*[[Genetic defect]] causing end [[Organ (biology)|organ]] resistance to the action of [[parathyroid hormone]] (PTH).
*[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS exons or loss of [[methylation]] at ''[[GNAS1|GNAS]]''
*[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS [[exons]] or loss of [[methylation]] at ''[[GNAS1|GNAS]]''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' 1,25 Dihydroxy vitamin D
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* '''↓''' Urinary cAMP
* '''↓''' [[CAMP|Urinary cAMP]]
* ↓ Urinary phosphate
* ↓ [[Phosphate|Urinary phosphate]]
|-
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating mutations that reduce expression or function of Gα<sub>s</sub>
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>
*Genetic mutation disrupts receptor-mediated activation of adenylyl cyclase but does not affect receptor-independent activation of the enzyme.
*[[Genetic mutation]] disrupts receptor-mediated activation of [[adenylyl cyclase]] but does not affect receptor-independent activation of the [[enzyme]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' 1,25 Dihydroxy vitamin D
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* '''↓''' Urinary cAMP
* '''↓''' [[CAMP|Urinary cAMP]]
* '''↓''' Urinary phosphate
* '''↓''' [[Phosphate|Urinary phosphate]]
|-
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 2'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 2'''
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| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' 1,25 Dihydroxy vitamin D
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* Normal urinary cAMP
* [[CAMP|Normal urinary cAMP]]
* '''↓''' Urinary phosphate
* '''↓''' [[Phosphate|Urinary phosphate]]
|-
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*Combination of inactivating mutations of ''[[GNAS1]]'' and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]
*Combination of inactivating [[mutations]] of ''[[GNAS1]]'' and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
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| style="padding: 5px 5px; background: #F5F5F5;" | --
| style="padding: 5px 5px; background: #F5F5F5;" | --
|-
|-
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypoparathyroidism'''
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hypoparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*There is deficiency of parathyroid hormone in hypoparathyroidism.
*There is deficiency of [[parathyroid hormone]] in [[hypoparathyroidism]].
*Deficiency of parathyroid hormone causes body to decrease:
*Deficiency of [[parathyroid hormone]] causes body to decrease:
**Reabsorption of calcium from bone.
**Reabsorption of [[calcium]] from [[bone]].
**Excretion of phosphate.
**Excretion of [[phosphate]].
**Reabsorbtion of calcium from distal tubules.
**Reabsorbtion of [[calcium]] from [[distal tubules]].
**Vitamin D mediated absorption of calcium from intestine.
**[[Vitamin D]] mediated [[absorption]] of [[calcium]] from [[intestine]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*'''↓''' 1,25 Dihydroxy vitamin D
*'''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
*Normal urinary cAMP
*[[CAMP|Normal urinary cAMP]]
*Normal urinary phosphate
*[[Phosphate group|Normal urinary phosphate]]
|--
|--
|-
|-
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypomagnesemia'''<ref name="pmid26069819">{{cite journal |vauthors=Jahnen-Dechent W, Ketteler M |title=Magnesium basics |journal=Clin Kidney J |volume=5 |issue=Suppl 1 |pages=i3–i14 |year=2012 |pmid=26069819 |pmc=4455825 |doi=10.1093/ndtplus/sfr163 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref>
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hypomagnesemia]]'''<ref name="pmid26069819">{{cite journal |vauthors=Jahnen-Dechent W, Ketteler M |title=Magnesium basics |journal=Clin Kidney J |volume=5 |issue=Suppl 1 |pages=i3–i14 |year=2012 |pmid=26069819 |pmc=4455825 |doi=10.1093/ndtplus/sfr163 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref>
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Decreased parathyroid hormone (PTH) secretion
*Decreased [[parathyroid hormone]] (PTH) secretion
*Skeletal resistance to PTH
*Skeletal resistance to [[parathyroid hormone]] (PTH)
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Inappropriately '''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Inappropriately '''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal/'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal/'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | --
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | --
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' serum magnesium
* '''↓''' [[Magnesium|serum magnesium]]
* '''↓'''/Normal serum potassium
* '''↓'''/Normal [[Potassium|serum potassium]]
|-  
|-  
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Acrodysostosis'''
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Acrodysostosis]]'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 1'''  
! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 1'''  
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* ''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance
* ''PRKAR1A'' germ-line [[Mutations|mutation]] in the encoding [[gene]] resulting in [[parathyroid]] resistance
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''  
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| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* [[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance
* [[Phosphodiesterase]] 4D (PDE4D) [[gene mutation]] resulting in [[parathyroid]] resistance
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''  
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! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Blomstrand chondrodysplasia'''
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Blomstrand chondrodysplasia'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* [[Genetic defect]]<nowiki/>causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance
* [[Homozygous]] or [[heterozygous]] [[mutations]] in both [[alleles]] encoding the [[Parathyroid hormone receptor 1|type 1 parathyroid hormone receptor]] resulting in [[parathyroid]] resistance
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' Urinary [[Phosphate]], '''↑''' Urinary [[cAMP]]
|-
|-
! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hyperparathyroidism'''  
! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism]]'''  
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Primary hyperparathyroidism'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Primary hyperparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Increase in secretion of parathyroid hormone (PTH) from a primary process in parathyroid gland.  
*Increase in secretion of [[parathyroid hormone]] (PTH) from a primary process in [[parathyroid gland]].  
*Parathyroid hormone causes increase in serum calcium.
*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
| style="padding: 5px 5px; background: #F5F5F5;" |Normal/↑ calcitriol
| style="padding: 5px 5px; background: #F5F5F5;" |Normal/↑ [[calcitriol]]
|-
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Secondary hyperparathyroidism'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Secondary hyperparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Increase in secretion of parathyroid hormone (PTH) from a secondary process.  
*Increase in secretion of [[parathyroid hormone]] (PTH) from a secondary process.  
*Parathyroid hormone causes increase in serum calcium after long periods.
*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]] after long periods.
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
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| style="padding: 5px 5px; background: #F5F5F5;" | --
| style="padding: 5px 5px; background: #F5F5F5;" | --
|-
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Tertiary hyperparathyroidism'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism|Tertiary hyperparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Continuous elevation of parathyroid hormone(PTH) even after successful treatment of the secondary cause of elevated parathyroid hormone.  
*Continuous elevation of [[Parathyroid hormone|parathyroid hormone(PTH)]] even after successful treatment of the secondary cause of elevated [[parathyroid hormone]].  
*Parathyroid hormone causes increase in serum calcium.
*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''

Revision as of 14:04, 17 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Differentiating Pseudohypoparathyroidism from other Diseases

Differential diagnosis of Pseudohypoparathyroidism
Disorders Mechanism Laboratory findings
Serum PTH Serum Calcium Serum Phosphate Other findings
Pseudohypoparathyroidism [1][2][3] Type 1a ↑ ↓ ↑
Type 1b ↑ ↓ ↑
Type 1c ↑ ↓ ↑
Type 2 ↑ ↓ ↑
Pseudopseudohypoparathyroidism Normal Normal Normal --
Hypoparathyroidism ↓ ↓ ↑
Hypomagnesemia[4][5] Inappropriately ↓ Normal/↓ --
Acrodysostosis Acrodysostosis type 1 ↑ ↓ ↑ Multiple hormone resistance
Acrodysostosis type 2 ↑ ↓ ↑ Multiple hormone resistance
Blomstrand chondrodysplasia ↑ ↓ ↑ ↓ Urinary Phosphate, ↑ Urinary cAMP
Hyperparathyroidism Primary hyperparathyroidism ↑ ↑ ↓/Normal Normal/↑ calcitriol
Secondary hyperparathyroidism ↑ ↓/Normal ↑ --
Tertiary hyperparathyroidism ↑ ↑ ↑

--

References

  1. ↑ Levine MA (2012). "An update on the clinical and molecular characteristics of pseudohypoparathyroidism". Curr Opin Endocrinol Diabetes Obes. 19 (6): 443–51. doi:10.1097/MED.0b013e32835a255c. PMC 3679535. PMID 23076042.
  2. ↑ Mantovani G (2011). "Clinical review: Pseudohypoparathyroidism: diagnosis and treatment". J. Clin. Endocrinol. Metab. 96 (10): 3020–30. doi:10.1210/jc.2011-1048. PMID 21816789.
  3. ↑ Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H (2015). "A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism". J. Bone Miner. Res. 30 (10): 1803–13. doi:10.1002/jbmr.2532. PMC 4580526. PMID 25891861.
  4. ↑ Jahnen-Dechent W, Ketteler M (2012). "Magnesium basics". Clin Kidney J. 5 (Suppl 1): i3–i14. doi:10.1093/ndtplus/sfr163. PMC 4455825. PMID 26069819.
  5. ↑ Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E (1979). "Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone". J. Clin. Invest. 64 (5): 1238–44. doi:10.1172/JCI109578. PMC 371269. PMID 227929.


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