web analytics

Pseudohypoparathyroidism

Hot:

Pseudohypoparathyroidism
Also Called Albright’s Hereditary Osteodystrophy

X-ray showing typicial pseudohypoparathyroidism aflicted persons hand

Typical X-ray of hand from someone with Pseudohypoparathyroidism

Types 1A and 1B pseudohypoparathyroidism

Pseudohypoparathyroidism is really a genetic dysfunction which is comparable to hypoparathyroidism, but which results from the body’s lack of reaction to the parathyroid hormone instead of lowered production of the hormone.

Causes, incidence, and risk factors

The parathyroid glands help control calcium use and elimination by the body. They do this by producing parathyroid hormone, or PTH. PTH helps control calcium, phosphorus, and vitamin D levels within the blood and bone.

People 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.

Type 1A 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 syndrome causes short stature, round face, and short hand bones, and is also called Albright’s hereditary osteodystrophy.

Type 1B involves resistance to PTH only in the kidneys. Type 1B is less understood than type 1A. Type 2 is very similar to type 1 in its clinical features, but the events that take place in the kidneys are different.

Type 2 pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels, but persons with this type do not develop the physical features seen in those with Type 1A.

All forms of pseudohypoparathyroidism are very rare.

Symptoms of pseudohypoparathyroidism

Symptoms are related to low levels of calcium and include:

Cataracts

Dental problems

Numbness

Seizures

Tetany (a assortment of symptoms including muscle twitches and hand and foot spasms)

Persons with Albright’s hereditary osteodystrophy ( Pseudohypoparathyroidism ) often have the following symptoms:

Calcium deposits beneath the skin

Dimples that can replace knuckles on affected fingers

Rounded face and short neck

Short hand bones, especially the bone below the 4th finger

Short stature

Signs and tests

Blood tests will be done to check calcium, phosphorus, and PTH levels. Urine tests may also be done.

Other tests may involve:

Genetic testing

Head MRI or CT scan of the brain

Treatment of the Pseudohypoparathyroidism

Calcium and vitamin D supplements are prescribed to maintain correct calcium levels. If blood phosphate levels remain high, a low-phosphorus diet or medicines called phosphate binders (such as calcium carbonate or calcium acetate) may be necessary.
Expectations (prognosis)

Low blood calcium in pseudohypoparathyroidism is usually less severe than in other forms of hypoparathyroidism.

Complications

Patients with type Ia pseudohypoparathyroidism have an increased rate of other endocrine abnormalities (such as hypothyroidism and hypogonadism).

Complications of  hypocalcemia connected with pseudohypoparathyroidism could include things like seizures and other endocrine issues, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased bodyweight.

Contacting your doctor

Call your doctor if you or your child have any symptoms of hypocalcemia or other features of pseudohypoparathyroidism.

Incoming search terms:

  • pseudohypoparathyroidism type 2
  • pseudohypoparathyroidism genetics
  • pseudohypoparathyroidism type 1b
  • pseudohypoparathyroidism levels
  • Albright and short syndrome
  • Pseudohypoparathyroidism com
  • genes for pseudo pseudo hypoparathyroidism
  • pseudohypoparathyroidism xray
  • Albright Herditary Pseudohypoparathyroidism
  • pseudohypoparathyroidism type 1b inheritance

One Response to Pseudohypoparathyroidism

  1. [...] Pseudohypoparathyroidism [...]

Leave a Reply

We Want To Be Your Pin Up

About This Website

I created this site to share my experience with Pseudohypoparathyroidism.

Most of the websites I've found on the topic say the same thing without any real insight into the complexities of dealing with this condition.

After being in contact with a few others who have or have family members with Pseudohypoparathyroidism, I realized that there are a number of details that patients may not be aware of.

I hope this site will help fill some of those information gaps.

Don't forget to check out our Thyroid Discussion Forum:

Tweet With Us


You might also likeclose