What Is Pseudohypoparathyroidism (PHP)?

What Is Pseudohypoparathyroidism (PHP)?
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Hypoparathyroidism is a rare medical condition in which the body cannot produce enough parathyroid hormone (PTH) from the parathyroid glands. In contrast, people with pseudohypoparathyroidism (PHP) produce normal amounts of PTH, but they lack the receptors that respond to PTH.

PTH regulates the amount of phosphate and calcium by controlling how the body absorbs calcium during digestion and bone tissue break-down. Without PTH, or when the body cannot respond to PTH, blood levels of calcium become very low, and phosphate levels increase. That is why the symptoms of hypoparathyroidism and PHP are very similar.

What causes PHP?

There are two types of PHP. Type 1 is can be further subdivided into three subtypes (A, B, and C).  Some patients may have problems with hormonal secretion from the adrenal glands (adrenal insufficiency).

Mutations in a gene called GNAS, which provides the instructions necessary for making a portion of the receptor that recognizes PTH signals, can cause PHP type 1. Scientists don’t know the genetic causes of PHP type 2.

Is PHP a heritable disease?

Yes, PHP can be inherited, though some cases occur because of spontaneous mutations rather than a patient inheriting a disease-causing mutation from their parents.

Patients inherit PHP type 1A in a dominant manner. This means they develop the disease even if they inherit a single copy of a disease-causing mutation.

How do doctors diagnose it?

Doctors can diagnose PHP with blood tests to measure the levels of calcium, phosphorous, and PTH. If PTH and phosphate levels are high, while calcium levels are low, a patient may have PHP. It may be possible to confirm the diagnosis with genetic testing, looking for mutations in the GNAS gene.

How do doctors treat it?

The levels of calcium in PHP patients usually are not as low as in hypoparathyroidism. Doctors normally treat patients with calcium and vitamin D supplements. Some patients may need to control their phosphate levels with phosphate binders. These are medications that patients take with their meals. They bind to phosphate in food and reduce the amount that the body absorbs. Some patients may be able to maintain normal phosphate levels by consuming a low-phosphate diet.

Last updated: June 26, 2020

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Hypoparathyroidism News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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