Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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Revision as of 16:17, 16 October 2017

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
Disorders		Mechanism	Serum PTH	Serum Calcium	Serum Phosphate	Other findings
Pseudohypoparathyroidism ^[1]^[2]^[3]	Type 1a	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Heterozygous GNAS inactivating mutations that reduce expression or function of Gα_s Genetic mutation disrupts both receptor-mediated activation of adenylyl cyclase and receptor-independent activation of the enzyme.	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D ↓ Urinary cAMP ↓ Urinary phosphate
	Type 1b	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Familial- heterozygous deletions in STX16, NESP55, and/or AS exons or loss of methylation at GNAS	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D ↓ Urinary cAMP ↓ Urinary phosphate
	Type 1c	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Heterozygous GNAS inactivating mutations that reduce expression or function of Gα_s Genetic mutation disrupts receptor-mediated activation of adenylyl cyclase but does not affect receptor-independent activation of the enzyme.	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D ↓ Urinary cAMP ↓ Urinary phosphate
	Type 2	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH).	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D Normal urinary cAMP ↓ Urinary phosphate
	Pseudopseudohypoparathyroidism	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Combination of inactivating mutations of GNAS1 and Albright's osteodystrophy	Normal	Normal	Normal	--
Hypoparathyroidism		There is deficiency of parathyroid hormone in hypoparathyroidism. 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.	↓	↓	↑	↓ 1,25 Dihydroxy vitamin D Normal urinary cAMP Normal urinary phosphate
Hypomagnesemia^[4]^[5]		Decreased parathyroid hormone (PTH) secretion Skeletal resistance to PTH	Inappropriately ↓	Normal/↓	--	↓ serum magnesium ↓/Normal serum potassium
Acrodysostosis	Acrodysostosis type 1	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	↑	↓	↑	Multiple hormone resistance
Acrodysostosis	Acrodysostosis type 2	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Phosphodiesterase 4D (PDE4D) gene mutation resulting in parathyroid resistance	↑	↓	↑	Multiple hormone resistance
Blomstrand chondrodysplasia		Genetic defect 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	↑	↓	↑	↓ Urinary Phosphate, ↑ Urinary cAMP
Hyperparathyroidism	Primary hyperparathyroidism	Increase in secretion of parathyroid hormone (PTH) from a primary process in parathyroid gland. Parathyroid hormone causes increase in serum calcium.	↑	↑	↓/Normal	Normal/↑ calcitriol
	Secondary hyperparathyroidism	Increase in secretion of parathyroid hormone (PTH) from a secondary process. Parathyroid hormone causes increase in serum calcium after long periods.	↑	↓/Normal	↑	--
	Tertiary hyperparathyroidism	Continuous elevation of parathyroid hormone(PTH) even after successful treatment of the secondary cause of elevated parathyroid hormone. Parathyroid hormone causes increase in serum calcium.	↑	↑	↑	--

References

↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

Template:WikiDoc Sources

[pmid23076042-1] 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.

[pmid21816789-2] 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.

[pmid25891861-3] 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.

[pmid26069819-4] 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.

[pmid227929-5] 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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[5]

@@ Line 8: / Line 8: @@
 <div style="width: 90%;">
 {|
-! 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}}
 |-
 | colspan="2" rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Disorders'''}}
@@ Line 14: / Line 14: @@
 ! 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>
+! 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;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
@@ Line 33: / Line 33: @@
 * '''↓''' 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;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
@@ Line 45: / Line 45: @@
 * ↓ 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;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
@@ Line 58: / Line 58: @@
 * '''↓''' Urinary phosphate
 |-
-| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 2'''
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 2'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
@@ Line 69: / Line 69: @@
 * '''↓''' 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;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
@@ Line 78: / Line 78: @@
 | 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;" |
 *There is deficiency of parathyroid hormone in hypoparathyroidism.
@@ Line 95: / Line 95: @@
 |--
 |-
-| 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;" |
 *Decreased parathyroid hormone (PTH) secretion
@@ Line 106: / Line 106: @@
 * '''↓'''/Normal 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;" |
 * [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
@@ Line 116: / Line 116: @@
 | 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: #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).
 * [[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance
@@ Line 125: / Line 125: @@
 | style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance
 |-
-| 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).
 * Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance
@@ Line 134: / Line 134: @@
 | 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;" |
 *Increase in secretion of parathyroid hormone (PTH) from a primary process in parathyroid gland.
@@ Line 144: / Line 144: @@
 | 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;" |
 *Increase in secretion of parathyroid hormone (PTH) from a secondary process.
@@ Line 151: / Line 151: @@
 | 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: #F5F5F5;" | --
 |-
-| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Tertiary hyperparathyroidism'''
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Tertiary hyperparathyroidism'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Continuous elevation of parathyroid hormone(PTH) even after successful treatment of the secondary cause of elevated parathyroid hormone.
@@ Line 165: / Line 165: @@
 |}
 </div>
-</small>
 ==References==

Pseudohypoparathyroidism differential diagnosis: Difference between revisions

Revision as of 16:17, 16 October 2017

Overview

Differentiating Pseudohypoparathyroidism from other Diseases

References

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