Pseudohypoparathyroidism differential diagnosis: Difference between revisions
Jump to navigation
Jump to search
Mazia Fatima (talk | contribs) No edit summary |
Ahmed Younes (talk | contribs) No edit summary |
||
| (29 intermediate revisions by 2 users not shown) | |||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Pseudohypoparathyroidism]] | |||
{{CMG}}; {{AE}} {{Mazia}} | {{CMG}}; {{AE}} {{Mazia}} | ||
==Overview== | ==Overview== | ||
Pseudohypoparathyroidism can be differentiated from other causes of [[increased parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia, [[acrodysostosis]], [[hypomagnesemia]], [[hypoparathyroidism]] and [[hyperparathyroidism]]. | |||
==Differentiating Pseudohypoparathyroidism from other Diseases== | ==Differentiating Pseudohypoparathyroidism from other Diseases== | ||
<div style="width: | <div style="width:85%;"> | ||
*Pseudohypoparathyroidism can be differentiated from other causes of increased [[parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia, [[acrodysostosis]], [[hypomagnesemia]], [[hypoparathyroidism]] and [[hyperparathyroidism]].<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><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="8" | ! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}} | ||
|- | |- | ||
| colspan="2" rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Disorders'''}} | | colspan="2" rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Disorders'''}} | ||
| rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Mechanism | | rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Mechanism'''}} | ||
! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}} | ! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}} | ||
|- | |- | ||
|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}} | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}} | ||
|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}} | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}} | ||
|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}} | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}} | ||
|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}} | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}} | ||
|- | |- | ||
! 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: #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: #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: #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: #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). | ||
| Line 65: | Line 67: | ||
| 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: #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 | ||
| Line 78: | Line 80: | ||
| style="padding: 5px 5px; background: #F5F5F5;" | -- | | style="padding: 5px 5px; background: #F5F5F5;" | -- | ||
|- | |- | ||
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hypoparathyroidism]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Decreased parathyroid hormone (PTH) secretion | *There is deficiency of [[parathyroid hormone]] in [[hypoparathyroidism]]. | ||
*Skeletal resistance to PTH | *Deficiency of [[parathyroid hormone]] causes body to decrease: | ||
**Reabsorption of [[calcium]] from [[bone]]. | |||
**Excretion of [[phosphate]]. | |||
**Reabsorbtion of [[calcium]] from [[distal tubules]]. | |||
**[[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;" | | |||
*'''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]] | |||
*[[CAMP|Normal urinary cAMP]] | |||
*[[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> | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Decreased [[parathyroid hormone]] (PTH) secretion | |||
*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]]''' | |||
! 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" |'''↓''' | ||
| Line 99: | Line 118: | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance | ||
|- | |- | ||
! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 2''' | |||
| 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" |'''↓''' | ||
| Line 108: | Line 127: | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance | ||
|- | |- | ||
! 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]] | * [[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]]''' | |||
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Primary hyperparathyroidism]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Increase in secretion of [[parathyroid hormone]] (PTH) from a primary process in [[parathyroid gland]]. | |||
*[[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" |↓/Normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" |Normal/↑ [[calcitriol]] | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Secondary hyperparathyroidism]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Increase in secretion of [[parathyroid hormone]] (PTH) from a secondary process. | |||
*[[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" |↓/Normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | -- | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism|Tertiary hyperparathyroidism]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*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 [[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;" | | |||
-- | |||
|- | |||
|} | |} | ||
</div> | </div> | ||
Latest revision as of 20:39, 26 February 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Pseudohypoparathyroidism can be differentiated from other causes of increased parathyroid hormone( PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, acrodysostosis, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.
Differentiating Pseudohypoparathyroidism from other Diseases
- Pseudohypoparathyroidism can be differentiated from other causes of increased parathyroid hormone( PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, acrodysostosis, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.[1][2][3][4]
| 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[5][4] |
|
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
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 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.
- ↑ 3.0 3.1 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.
- ↑ 4.0 4.1 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.
- ↑ 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.