Pseudohypoparathyroidism: Difference between revisions
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{{Infobox medical condition | |||
| name = Pseudohypoparathyroidism | |||
| synonyms = PHP | |||
| field = [[Endocrinology]] | |||
| symptoms = [[Hypocalcemia]], [[hyperphosphatemia]], [[short stature]], [[obesity]], [[brachydactyly]] | |||
| complications = [[Seizures]], [[cataracts]], [[dental problems]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Genetic mutations affecting [[parathyroid hormone]] signaling | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood test]]s, [[genetic testing]] | |||
| differential = [[Hypoparathyroidism]], [[pseudopseudohypoparathyroidism]] | |||
| treatment = [[Calcium]] and [[vitamin D]] supplementation | |||
| medication = [[Calcitriol]], [[calcium carbonate]] | |||
| frequency = Rare | |||
| deaths = Rarely life-threatening | |||
}} | |||
'''Pseudohypoparathyroidism''' is a rare disorder characterized by resistance to the parathyroid hormone. Those with the disorder have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low serum calcium). | '''Pseudohypoparathyroidism''' is a rare disorder characterized by resistance to the parathyroid hormone. Those with the disorder have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low serum calcium). | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The symptoms of pseudohypoparathyroidism are related to the low levels of calcium in the blood and can include any of the following: numbness, muscle cramps, and seizures. In addition, patients may exhibit physical traits such as short stature, round face, and short hand bones. | The symptoms of pseudohypoparathyroidism are related to the low levels of calcium in the blood and can include any of the following: numbness, muscle cramps, and seizures. In addition, patients may exhibit physical traits such as short stature, round face, and short hand bones. | ||
== Causes == | == Causes == | ||
Pseudohypoparathyroidism is caused by mutations in the GNAS1 gene. This gene provides instructions for making a protein that helps regulate the activity of many hormone receptors. | Pseudohypoparathyroidism is caused by mutations in the GNAS1 gene. This gene provides instructions for making a protein that helps regulate the activity of many hormone receptors. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of pseudohypoparathyroidism is based on a series of tests that may include blood tests, urine tests, and genetic testing. | The diagnosis of pseudohypoparathyroidism is based on a series of tests that may include blood tests, urine tests, and genetic testing. | ||
== Treatment == | == Treatment == | ||
The treatment for pseudohypoparathyroidism is focused on managing the symptoms and may include vitamin D and calcium supplements. | The treatment for pseudohypoparathyroidism is focused on managing the symptoms and may include vitamin D and calcium supplements. | ||
== See Also == | == See Also == | ||
* [[Parathyroid hormone]] | * [[Parathyroid hormone]] | ||
| Line 18: | Line 31: | ||
* [[Phosphate]] | * [[Phosphate]] | ||
* [[GNAS1]] | * [[GNAS1]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:15, 4 April 2025
| Pseudohypoparathyroidism | |
|---|---|
| Synonyms | PHP |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hypocalcemia, hyperphosphatemia, short stature, obesity, brachydactyly |
| Complications | Seizures, cataracts, dental problems |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations affecting parathyroid hormone signaling |
| Risks | Family history of the condition |
| Diagnosis | Blood tests, genetic testing |
| Differential diagnosis | Hypoparathyroidism, pseudopseudohypoparathyroidism |
| Prevention | N/A |
| Treatment | Calcium and vitamin D supplementation |
| Medication | Calcitriol, calcium carbonate |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | Rarely life-threatening |
Pseudohypoparathyroidism is a rare disorder characterized by resistance to the parathyroid hormone. Those with the disorder have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low serum calcium).
Signs and Symptoms[edit]
The symptoms of pseudohypoparathyroidism are related to the low levels of calcium in the blood and can include any of the following: numbness, muscle cramps, and seizures. In addition, patients may exhibit physical traits such as short stature, round face, and short hand bones.
Causes[edit]
Pseudohypoparathyroidism is caused by mutations in the GNAS1 gene. This gene provides instructions for making a protein that helps regulate the activity of many hormone receptors.
Diagnosis[edit]
The diagnosis of pseudohypoparathyroidism is based on a series of tests that may include blood tests, urine tests, and genetic testing.
Treatment[edit]
The treatment for pseudohypoparathyroidism is focused on managing the symptoms and may include vitamin D and calcium supplements.
See Also[edit]
References[edit]
<references />
