What causes Pseudopseudohypoparathyroidism?

PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a).

Is there a cure for pseudohypoparathyroidism?

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.

What is PHP1A?

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.

What is the difference between Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism?

The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH.

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.

What are the symptoms of Pseudohypoparathyroidism?

Pseudohypoparathyroidism is characterized by short stature, a round face, short neck, and shortened bones in the hands and feet. Intelligence usually ranges from low normal to mentally retarded. Headaches, weakness, tiring easily, lethargy, cataracts and blurred vision or hypersensitivity to light may also be present.

How do you feel with hypoparathyroidism?

The symptoms of hypoparathyroidism can include:

1. a tingling sensation (paraesthesia) in your fingertips, toes and lips.
2. twitching facial muscles.
3. muscle pains or cramps, particularly in your legs, feet or tummy.
4. tiredness.
5. mood changes, such as feeling irritable, anxious or depressed.
6. dry, rough skin.

Does hypoparathyroidism go away?

Congenital hypoparathyroidism that occurs during the first few months of life may be temporary (transient) or permanent. In some patients, the cause of hypoparathyroidism is unknown (idiopathic). In some of these cases, hypoparathyroidism may resolve (spontaneously), but most do not resolve and usually need treatment.

Why is calcium low in Pseudohypoparathyroidism?

Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low level of calcium in the blood).

Is Pseudohypoparathyroidism hereditary?

How to treat pseudohypoparathyroidism and endocrinopathies?

Some patients have associated endocrinopathies. Hypothyroidism is the most common, but hypogonadism is also seen. The mainstay of treatment is the normalization of calcium and phosphate levels using calcium supplementation, vitamin D, and thiazide diuretics.

How is the diagnosis of pseudopseudohypopayroidism ( PPHP ) determined?

Diagnosis of PPHP is based on the presence of features of Albright hereditary osteodystrophy (AHO) without parathyroid hormone (PTH) resistance. If there are features of AHO and resistance to PTH a different form of pseudohypoparathyroidism (PHP) will be considered.

How is pseudopseudohypoparathyroidism similar to pseudohypoparathyroidism?

What is pseudopseudohypoparathyroidism? Pseudopseudohypoparathyroidism is genetically similar to pseudohypoparathyroidism; both conditions share the same signs and symptoms such as skeletal defects but with pseudopseudohypoparathyroidism the body is able to manage calcium, phosphorus, and vitamin D levels.

What should you do if you have pneumonia?

When you get a pneumonia diagnosis, your doctor will work with you to develop a treatment plan. Treatment for pneumonia depends on the type of pneumonia you have, how sick you are feeling, your age, and whether you have other health conditions. The goals of treatment are to cure the infection and prevent complications.