Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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Revision as of 19:29, 5 October 2017

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

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Diseases with similar symptoms

Disorders		Mechanism of hypocalcemia	Laboratory findings
Disorders		Mechanism of hypocalcemia	Serum PTH	Serum Calcium	Serum Phosphate	Other findings
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

@@ Line 22: / Line 22: @@
 |Other findings
 |-
-| rowspan="2"  |Acrodysostosis
+| rowspan="2" |Acrodysostosis
 |Acrodysostosis type 1
-|''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance
+|
+* [[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
 |'''↑'''
 |'''↓'''
@@ Line 31: / Line 33: @@
 |-
 |Acrodysostosis type 2
-|[[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance
+|
+* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
+* [[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance
 |'''↑'''
 |'''↓'''
@@ Line 38: / Line 42: @@
 |-
 | colspan="2" |Blomstrand chondrodysplasia
-|Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance
+|
+* [[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
 |'''↑'''
 |'''↓'''