Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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{{Pseudohypoparathyroidism}}
[[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:50%;">
<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" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}}
! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}}
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! 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 (biology)|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.
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! 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 [[Mutations|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" |'''↑'''  
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! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 2'''  
! 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" |'''↑'''  
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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]]<nowiki/>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 [[Parathyroid hormone receptor 1|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" |'''↑'''  

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

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. ↑ 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. ↑ 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. ↑ 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. ↑ 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.
  5. ↑ 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.


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