Pseudohypoparathyroidism (patient information): Difference between revisions
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==Overview== | ==Overview== | ||
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]]. | |||
==What are the symptoms of Pseudohypoparathyroidism?== | ==What are the symptoms of Pseudohypoparathyroidism?== | ||
There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2. | There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2. | ||
*Signs and symptoms in type 1b and type 2 | *Signs and symptoms in type 1b and type 2 | ||
:*[[Numbness]] | :*[[Numbness]] | ||
:*[[Tetany]] | :*[[Tetany]] | ||
:*[[Seizures]] | :*[[Seizures]] | ||
:*[[Cataracts]] | :*[[Cataracts]] | ||
:*Dental problems | :*[[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: | *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: | ||
:*[[Short stature]]: Round face, short neck, and short hand bones | :*[[Short stature]]: Round [[face]], short [[neck]], and short hand [[bones]] | ||
:*Calcium deposits under the skin | :*[[Calcium]] deposits under the [[skin]] | ||
:*Dimples that can replace knuckles on affected fingers | :*Dimples that can replace knuckles on affected [[Finger|fingers]] | ||
Diseases with similar symptoms | Diseases with similar symptoms | ||
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==What causes Pseudohypoparathyroidism?== | ==What causes Pseudohypoparathyroidism?== | ||
The parathyroid glands help control calcium use and removal by the body. They do this by producing parathyroid hormone | The [[parathyroid glands]] help control [[calcium]] use and removal by the body. They do this by producing [[parathyroid hormone]]( PTH). PTH helps control [[calcium]], [[phosphorus]], and [[vitamin D]] levels within the blood and bone. | ||
Persons with pseudohypoparathyroidism produce the right amount of PTH, but the body is "resistant" to its effect. This causes low blood calcium levels and high blood phosphate levels. | Persons with pseudohypoparathyroidism produce the right amount of [[PTH]], but the body is "resistant" to its effect. This causes low blood [[calcium]] levels and high blood [[phosphate]] levels. | ||
Pseudohypoparathyroidism is caused by abnormal genes. All forms of pseudohypoparathyroidism are very rare. | Pseudohypoparathyroidism is caused by abnormal [[genes]]. All forms of pseudohypoparathyroidism are very rare. | ||
Type Ia is inherited in an autosomal dominant manner. That means only one parent needs to pass you the defective gene in order for you to develop the condition. The condition causes short stature, round face, and short hand bones, and is also called Albright's hereditary osteodystrophy. | Type Ia is inherited in an [[autosomal dominant]] manner. That means only one parent needs to pass you the defective [[gene]] in order for you to develop the condition. The condition causes [[short stature]], round face, and short hand bones, and is also called [[Albright's hereditary osteodystrophy]]. | ||
Type Ib involves resistance to PTH only in the kidneys. Type Ib is less understood than type Ia. Type II is very similar to type I in its clinical features, but the events that take place in the kidneys are different. | Type Ib involves resistance to [[PTH]] only in the [[kidneys]]. Type Ib is less understood than type Ia. Type II is very similar to type I in its clinical features, but the events that take place in the [[kidneys]] are different. | ||
Type II pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels, but persons with this form do not develop the physical characteristics seen in those with Type Ia. | Type II pseudohypoparathyroidism also involves low blood [[calcium]] and high blood [[phosphate]] levels, but persons with this form do not develop the physical characteristics seen in those with Type Ia. | ||
All forms of pseudohypoparathyroidism are very rare. | All forms of pseudohypoparathyroidism are very rare. | ||
==Who is at highest risk?== | ==Who is at highest risk?== | ||
All forms of pseudohypoparathyroidism are very rare. It is caused by abnormal genes. Researches demonstrate that type 1a is inherited in an autosomal dominant manner. | All forms of pseudohypoparathyroidism are very rare. It is caused by abnormal [[genes]]. Researches demonstrate that type 1a is inherited in an [[autosomal dominant]] manner. | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
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==Diagnosis== | ==Diagnosis== | ||
:*Blood tests: Patients with pseudohypoparathyroidism may indicate signs, such as low levels of blood-[[calcium]], blood-[[magnesium]] and a high level of blood-[[phosphorus]]. The level of [[parathyroid hormone]] may ususally be normal. | :*Blood tests: Patients with pseudohypoparathyroidism may indicate signs, such as low levels of blood-[[calcium]], blood-[[magnesium]] and a high level of blood-[[phosphorus]]. The level of [[parathyroid hormone]] may ususally be normal. | ||
:*Urine calcium test: Patients with pseudohypoparathyroidism may show much higher levels of urine calcium than normal. | :*Urine [[calcium]] test: Patients with pseudohypoparathyroidism may show much higher levels of urine [[calcium]] than normal. | ||
:*[[Genetic testing]]: Genetic testing can find abnormal genes and allow the genetic diagnosis to inherit diseases like pseudohypoparathyroidism. | :*[[Genetic testing]]: Genetic testing can find abnormal genes and allow the genetic diagnosis to inherit diseases like pseudohypoparathyroidism. | ||
:*Head [[CT]] or [[MRI]]: Head imagings allow the doctor to distinguish abnormal development of pseudohypoparathyroidism from other endocrine diseases. | :*Head [[CT]] or [[MRI]]: Head imagings allow the doctor to distinguish abnormal development of pseudohypoparathyroidism from other endocrine diseases. | ||
==Treatment options== | ==Treatment options== | ||
The goal of treatment for pseudohypoparathyroidism is to restore blood levels of [[calcium]] and [[phosphorus]] to normal. Calcium carbonate and vitamin D supplements are the only currently approved treatment. | The goal of treatment for pseudohypoparathyroidism is to restore blood levels of [[calcium]] and [[phosphorus]] to normal. [[Calcium carbonate]] and [[vitamin D]] supplements are the only currently approved treatment. | ||
:*Diet: Patients with pseudohypoparathyroidism are recommeded to take diets rich in calcium and low in phosphorus. Foods, such as green leafy vegetables, broccoli, kale, and fortified orange juice and breakfast cereals are appropriate. But patients had better not take many foods such as carbonated soft drinks, eggs and meats. | :*Diet: Patients with pseudohypoparathyroidism are recommeded to take diets rich in calcium and low in phosphorus. Foods, such as green leafy vegetables, broccoli, kale, and fortified orange juice and breakfast cereals are appropriate. But patients had better not take many foods such as carbonated soft drinks, eggs and meats. | ||
:*[[Calcium carbonate]] and [[vitamin D]] supplements: Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of [[hypoparathyroidism]]. Patients can take calcium and vitamin D as an oral supplement. | :*[[Calcium carbonate]] and [[vitamin D]] supplements: Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of [[hypoparathyroidism]]. Patients can take [[calcium]] and [[vitamin D]] as an oral supplement. | ||
==Where to find medical care for Pseudohypoparathyroidism?== | ==Where to find medical care for Pseudohypoparathyroidism?== | ||
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==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of [[hypoparathyroidism]]. | Low blood [[calcium]] in pseudohypoparathyroidism is usually milder than in other forms of [[hypoparathyroidism]]. | ||
==Possible complications== | ==Possible complications== | ||
Patients with type Ia pseudohypoparathyroidism have an increased rate of other endocrine abnormalities (such as [[hypothyroidism (patient information)|hypothyroidism]] and [[hypogonadism (patient information)|hypogonadism]]). | Patients with type Ia pseudohypoparathyroidism have an increased rate of other [[endocrine]] abnormalities (such as [[hypothyroidism (patient information)|hypothyroidism]] and [[hypogonadism (patient information)|hypogonadism]]). | ||
Complications of [[hypocalcemia]] associated with pseudohypoparathyroidism may include [[seizures]] and other endocrine problems, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased weight. | Complications of [[hypocalcemia]] associated with [[pseudohypoparathyroidism]] may include [[seizures]] and other [[endocrine]] problems, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased weight. | ||
==Sources== | ==Sources== | ||
http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm | http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm | ||
{{WH}} | |||
{{WS}} | |||
[[Category:Patient information]] | [[Category:Patient information]] | ||
[[Category:Endocrinology patient information]] | [[Category:Endocrinology patient information]] | ||
[[Category:Mature chapter]] | [[Category:Mature chapter]] | ||
[[Category:Disease | [[Category:Disease]] | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Overview complete]] | [[Category:Overview complete]] | ||
[[Category:For review]] | [[Category:For review]] | ||
Latest revision as of 16:52, 17 October 2017
For the WikiDoc page for this topic, click here
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Pseudohypoparathyroidism |
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Pseudohypoparathyroidism On the Web |
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Risk calculators and risk factors for Pseudohypoparathyroidism |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Jinhui Wu, M.D.
Overview
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.
What are the symptoms of Pseudohypoparathyroidism?
There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2.
- Signs and symptoms in type 1b and type 2
- 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:
Diseases with similar symptoms
What causes Pseudohypoparathyroidism?
The parathyroid glands help control calcium use and removal by the body. They do this by producing parathyroid hormone( PTH). PTH helps control calcium, phosphorus, and vitamin D levels within the blood and bone.
Persons with pseudohypoparathyroidism produce the right amount of PTH, but the body is "resistant" to its effect. This causes low blood calcium levels and high blood phosphate levels.
Pseudohypoparathyroidism is caused by abnormal genes. All forms of pseudohypoparathyroidism are very rare.
Type Ia is inherited in an autosomal dominant manner. That means only one parent needs to pass you the defective gene in order for you to develop the condition. The condition causes short stature, round face, and short hand bones, and is also called Albright's hereditary osteodystrophy.
Type Ib involves resistance to PTH only in the kidneys. Type Ib is less understood than type Ia. Type II is very similar to type I in its clinical features, but the events that take place in the kidneys are different.
Type II pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels, but persons with this form do not develop the physical characteristics seen in those with Type Ia.
All forms of pseudohypoparathyroidism are very rare.
Who is at highest risk?
All forms of pseudohypoparathyroidism are very rare. It is caused by abnormal genes. Researches demonstrate that type 1a is inherited in an autosomal dominant manner.
When to seek urgent medical care?
Call your health care provider if symptoms of pseudohypoparathyroidism develop. If you suffer either of the following symptoms, seeking urgent medical care as soon as possible:
Diagnosis
- Blood tests: Patients with pseudohypoparathyroidism may indicate signs, such as low levels of blood-calcium, blood-magnesium and a high level of blood-phosphorus. The level of parathyroid hormone may ususally be normal.
- Urine calcium test: Patients with pseudohypoparathyroidism may show much higher levels of urine calcium than normal.
- Genetic testing: Genetic testing can find abnormal genes and allow the genetic diagnosis to inherit diseases like pseudohypoparathyroidism.
- Head CT or MRI: Head imagings allow the doctor to distinguish abnormal development of pseudohypoparathyroidism from other endocrine diseases.
Treatment options
The goal of treatment for pseudohypoparathyroidism is to restore blood levels of calcium and phosphorus to normal. Calcium carbonate and vitamin D supplements are the only currently approved treatment.
- Diet: Patients with pseudohypoparathyroidism are recommeded to take diets rich in calcium and low in phosphorus. Foods, such as green leafy vegetables, broccoli, kale, and fortified orange juice and breakfast cereals are appropriate. But patients had better not take many foods such as carbonated soft drinks, eggs and meats.
- Calcium carbonate and vitamin D supplements: Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of hypoparathyroidism. Patients can take calcium and vitamin D as an oral supplement.
Where to find medical care for Pseudohypoparathyroidism?
Directions to Hospitals Treating pseudohypoparathyroidism
What to expect (Outlook/Prognosis)?
Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of hypoparathyroidism.
Possible complications
Patients with type Ia pseudohypoparathyroidism have an increased rate of other endocrine abnormalities (such as hypothyroidism and hypogonadism).
Complications of hypocalcemia associated with pseudohypoparathyroidism may include seizures and other endocrine problems, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased weight.