Pseudohypoparathyroidism history and symptoms: Difference between revisions

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{{Pseudohypoparathyroidism}}
{{Pseudohypoparathyroidism}}
{{CMG}}; {{AE}}{{Mazia}}


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==Overview==
==Overview==
A positive family history of pseudohypoparathyroidism is suggestive of the [[autosomal dominant]] inheritance.The most common symptoms of pseudohypoparathyroidism type 1a include [[short stature]], short limbs, [[mental retardation]] associated with [[Albright's hereditary osteodystrophy|Albright hereditary osteodystrophy]] [[phenotype]].
==History and Symptoms==
==History and Symptoms==
There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2.  
 
*Signs and symptoms in type 1b and type 2
===History===
:*[[Numbness]]  
* A positive history of hypocalcemia associated with [[Albright's hereditary osteodystrophy]] phenotype is suggestive of pseudohypoparathyroidism.
:*[[Tetany]]  
 
:*[[Seizures]]  
===Symptoms===
:*[[Cataracts]]  
*The most common symptoms of pseudohypoparathyroidism type 1a include [[short stature]],short limbs,[[mental retardation]] associated with [[Albright's hereditary osteodystrophy|Albright hereditary osteodystrophy]] [[phenotype]]<ref name="pmid28648505">{{cite journal |vauthors=Mantovani G, Elli FM, Corbetta S |title=Hypothyroidism associated with parathyroid disorders |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=31 |issue=2 |pages=161–173 |year=2017 |pmid=28648505 |doi=10.1016/j.beem.2017.04.004 |url=}}</ref>
:*Dental problems
 
*Signs and symptoms in type 1a: Type 1a is inherited in an autosomal dominant manner and is also called Albright's hereditary osteodystrophy. Besides signs in type 1b and type 2, patients with type 1a may have the following symptoms:
*Common symptoms due to associated [[hypocalcemia]] include:
:*[[Short stature]]: Round face, short neck, and short hand bones
**[[Paresthesia|Paresthesias]] (peri-oral, extremities)
:*Calcium deposits under the skin
**[[Muscle twitching]]
:*Dimples that can replace knuckles on affected fingers
**[[Carpopedal spasm]]
**[[Seizures]]
**[[Prolonged QT interval]]
**[[Hypotension]]
**[[Arrhythmia]]


==References==
==References==
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[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Nephrology]]
[[Category:Nephrology]]
[[Category:Mature chapter]]


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Latest revision as of 21:46, 17 October 2017

Pseudohypoparathyroidism Microchapters

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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

A positive family history of pseudohypoparathyroidism is suggestive of the autosomal dominant inheritance.The most common symptoms of pseudohypoparathyroidism type 1a include short stature, short limbs, mental retardation associated with Albright hereditary osteodystrophy phenotype.

History and Symptoms

History

Symptoms

References

  1. Mantovani G, Elli FM, Corbetta S (2017). "Hypothyroidism associated with parathyroid disorders". Best Pract. Res. Clin. Endocrinol. Metab. 31 (2): 161–173. doi:10.1016/j.beem.2017.04.004. PMID 28648505.


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