What causes Pseudohypoparathyroidism?

What causes Pseudohypoparathyroidism?

Pseudohypoparathyroidism is caused by changes ( mutations ) in a number of different genes including the GNAS1 gene. When this gene is not working correctly, the body is not able to properly respond to parathyroid hormone , which increases the level of phosphorous in the blood and decreases the level of calcium.

What is pseudo Pseudohypoparathyroidism?

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature , round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed.

Why is there hyperphosphatemia in Pseudohypoparathyroidism?

Pseudohypoparathyroidism type II is characterized by hypocalcemia and hyperphosphatemia in the presence of a normal increase in urinary cAMP but blunted phosphaturic response to infused PTH. This disorder has no clear genetic basis, and its cause remains obscure.

What is Pseudohypoparathyroidism Type 1A?

Pseudohypoparathyroidism type 1A (PHP1A) is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism occurs when your body is unable to respond to parathyroid hormone, a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood.

Is Pseudohypoparathyroidism genetic?

Pseudohypoparathyroidism is a hereditary disorder inherited either through X- linked dominant genes or through autosomal dominant genes. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

How common is Pseudohypoparathyroidism?

Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100000 population depending on geographic location.

What is pseudo pseudo?

“Pseudo-” indicates something false, deceptive, counterfeit, spurious—in other words, not “real,” At first glance we might think that “pseudo-” meant “not,” so that “pseudo-pseudo-” would present a double negative, and pseudo-pseudohypoparathyroidism might be no more than the original hypoparathyroidism.

How is Pseudohypoparathyroidism diagnosed?

Pseudohypoparathyroidism can be diagnosed by blood or urine tests to measure the levels of calcium, phosphorous, and parathyroid hormone. Genetic testing for a mutation in the GNAS1 gene can confirm diagnosis and identify subtype.

What does Hypophosphatemia mean?

Hypophosphatemia is defined as an adult serum phosphate level of fewer than 2.5 milligrams per deciliter (mg/dL). The normal level of serum phosphate in children is considerably higher and 7 mg/dL for infants. Hypophosphatemia is a relatively common laboratory abnormality and is often an incidental finding.

How many cases of Pseudohypoparathyroidism are there?

What is hungry bone syndrome?

Hungry bone syndrome (HBS) refers to the rapid, profound, and prolonged hypocalcaemia associated with hypophosphataemia and hypomagnesaemia, and is exacerbated by suppressed parathyroid hormone (PTH) levels, which follows parathyroidectomy in patients with severe primary hyperparathyroidism (PHPT) and preoperative high …

Is there such a thing as pseudohypoparathyroidism?

URL of this page: //medlineplus.gov/ency/article/000364.htm. Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone. A related condition is hypoparathyroidism, in which the body does not make enough parathyroid hormone. The parathyroid glands produce parathyroid hormone (PTH).

How does pseudohypoparathyroidism affect your bone growth?

General Discussion. Pseudohypoparathyroidism is a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although the hormone is present in normal amounts. This inadequate response affects bone growth in individuals with Pseudohypoparathyroidism.

What is the treatment for pseudohypoparathyroidism ( PTH )?

The goal of treatment for pseudohypoparathyroidism (PTH) is to return the levels of calcium and phosphorous to normal. This can be done by taking calcium supplements to increase the level of calcium in the body.

How is a mutation in the parathyroid hormone gene inherited?

When this gene is not working correctly, the body is not able to properly respond to parathyroid hormone, which increases the level of phosphorous in the blood and decreases the level of calcium. A mutation in this gene is most often inherited from the affected person’s mother, although it can sometimes be inherited from the father.