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.

Is pseudohypoparathyroidism an autoimmune disease?

Pseudohypoparathyroidism (PHP) is a state of parathyroid hormone resistance and is characterised by low serum calcium, and elevated serum phosphate and parathyroid hormone level. Association of PHP with autoimmune disorders is rare and seldom reported in the literature.

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.

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 do parathyroid hormones do?

Function of the parathyroid glands Parathyroid glands produce parathyroid hormone, which plays a key role in the regulation of calcium levels in the blood. Precise calcium levels are important in the human body, since small changes can cause muscle and nerve problems.

What other hormone deficiencies are likely in patients with Pseudohypoparathyroidism?

Patients with pseudohypoparathyroidism type 1a have hypocalcemia and PTH resistance associated with other endocrine deficits, including hypothyroidism and oligomenorrhea, and they have a characteristic body habitus, termed Albright hereditary osteodystrophy, with shortened metacarpals, short stature, round face, and …

What is Pseudohypoparathyroidism type 1B?

Pseudohypoparathyroidism type 1B (PHP1B) is a disorder characterized by lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH).

Is there a cure for Pseudohypoparathyroidism?

Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of PHP.

How do you know if you have parathyroid problems?

The most common symptoms of hyperparathyroidism are chronic fatigue, body aches, difficulty sleeping, bone pain, memory loss, poor concentration, depression, and headaches. Parathyroid disease also frequently leads to osteoporosis, kidney stones, hypertension, cardiac arrhythmias, and kidney failure.