Pseudohypoparathyroidism, in other words, PHP underactive thyroid, a genetic disease in which the body does not respond to parathyroid hormone – PTH. It is a condition similar to hypoparathyroidism, where the body does not produce optimal amounts of the hormone. Pseudohypoparathyroidism is also known as hereditary osteodystrophy Albright.
Glands producing parathyroid hormone (PTH) help to maintain the appropriate amount of calcium, phosphorus, and vitamins D within the blood and bones. People suffering from pseudohypoparathyroidism, do not produce adequate amounts of PTH, which occurs in their low levels of calcium and extremely high levels of phosphate in the blood.
Abnormalities in the genes cause the disease, but there are different kinds of its. Among the main types are:
- Type IA, inherited in an autosomal dominant, which means that only one of the parents can have a defective gene causing a disease of the child. This type is characterized by short stature, round face, and short hand bones. Also called hereditary osteodystrophy Albright.
- Type IB is the resistance to PTH in the kidney. The variety is not entirely explored.
- Type II pseudohypoparathyroidism – include deficiencies of calcium in the blood and high levels of phosphates.
The symptoms of pseudohypoparathyroidism
- dental problems,
- tetany – muscle twitching, cramping hands, and feet.
In cases of hereditary osteodystrophy Albright, among the symptoms can be distinguished:
- calcium deposits under the skin,
- dimples in his hands,
- round face and short neck,
- short hand bones,
- weak growth.
Diagnosis and treatment pseudohypoparathyroidism
For the diagnosis of disease, a blood test is performed to verify the level of calcium, phosphorus, and parathyroid hormone. Often, it is also a urine test. Additionally are carried out genetic tests, MRI or CT scan of the brain.
Treatment is based mostly on the use of calcium supplements and vitamin D, which help to maintain optimum levels of these micronutrients in the body. In the case of high concentration of phosphate in the blood, may be required low-phosphorus diet, or to the use of pharmacological therapy in the patient, taking medications bind phosphates – calcium carbonate or calcium acetate.
The disease is milder than other forms of hypoparathyroidism, but people suffering from type IA pseudohypoparathyroidism, are at increased risk of hormonal diseases like hypothyroidism or hypogonadism. In people with deficiencies of calcium, can appear other hormonal problems like:
- low libido,
- slow sexual development,
- decreased energy levels,
- weight gain.