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{{Pseudohypoparathyroidism}}
{{Pseudohypoparathyroidism}}
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{{CMG}}; {{AE}}
 
==Overview==
==Overview==
'''Pseudohypoparathyroidism''' is a condition caused by resistance to the [[parathyroid hormone]]. Patients have a low serum [[calcium]] and high [[phosphate]], but the parathyroid hormone level is appropriately high. Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance ([[Albright's hereditary osteodystrophy]]), including short fourth and fifth [[metacarpals]] and a rounded [[facies]].  Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.
'''Pseudohypoparathyroidism''' is a condition caused by resistance to the [[parathyroid hormone]]. Patients have a low serum [[calcium]] and high [[phosphate]], but the parathyroid hormone level is appropriately high. Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance ([[Albright's hereditary osteodystrophy]]), including short fourth and fifth [[metacarpals]] and a rounded [[facies]].  Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.


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Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body's lack of response to [[parathyroid hormone]] rather than decreased production of the substance. There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2. All forms of pseudohypoparathyroidism are very rare and are caused by abnormal genes. Usual signs and symptoms include [[numbness]], [[tetany]], [[seizures]], [[cataracts]] and dental problems. Patients with pseudohypoparathyroidism type 1a, which is also called Albright's hereditary osteodystrophy, may show signs of  
Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body's lack of response to [[parathyroid hormone]] rather than decreased production of the substance. There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2. All forms of pseudohypoparathyroidism are very rare and are caused by abnormal genes. Usual signs and symptoms include [[numbness]], [[tetany]], [[seizures]], [[cataracts]] and dental problems. Patients with pseudohypoparathyroidism type 1a, which is also called Albright's hereditary osteodystrophy, may show signs of  
[[short stature]]. Blood tests of minerals, genetic testing and head [[MRI]] may help diagnose the disorder. Treatment for pseudohypoparathyroidism includes taking [[calcium carbonate]] and [[vitamin D]] supplements to normalize blood levels of [[calcium]] and [[phosphorus]].
[[short stature]]. Blood tests of minerals, genetic testing and head [[MRI]] may help diagnose the disorder. Treatment for pseudohypoparathyroidism includes taking [[calcium carbonate]] and [[vitamin D]] supplements to normalize blood levels of [[calcium]] and [[phosphorus]].
==Historical Perspective==
==Classification==
==Pathophysiology==
==Causes==
==Differentiating Pseudohypoparathyroidism from Other Diseases==
==Epidemiology and Demographics==
==Risk Factors==
==Screening==
==Natural History, Complications, and Prognosis==
==Diagnosis==
===Diagnostic Criteria===
===History and Symptoms===
===Physical Examination===
===Laboratory Findings===
===Imaging Findings===
===Other Diagnostic Studies===
==Treatment==
===Medical Therapy===
===Surgery===
===Prevention===


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[Category:Needs content]]
[[Category:Disease]]
[[Category:Disease]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Nephrology]]
[[Category:Nephrology]]
[[Category:Mature chapter]]


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Revision as of 12:14, 25 July 2016

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

Overview

Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is appropriately high. Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.

The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body's lack of response to parathyroid hormone rather than decreased production of the substance. There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2. All forms of pseudohypoparathyroidism are very rare and are caused by abnormal genes. Usual signs and symptoms include numbness, tetany, seizures, cataracts and dental problems. Patients with pseudohypoparathyroidism type 1a, which is also called Albright's hereditary osteodystrophy, may show signs of short stature. Blood tests of minerals, genetic testing and head MRI may help diagnose the disorder. Treatment for pseudohypoparathyroidism includes taking calcium carbonate and vitamin D supplements to normalize blood levels of calcium and phosphorus.

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Pseudohypoparathyroidism from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References


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