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Pseudohypoparathyroidism is a genetic disease in which cells are resistant to the action of PTH, a hormone produced by the parathyroid gland. Do you feel a frequent tingling sensation in your arms or legs? Should sudden muscle contractions worry you? Check if you suffer from pseudohypoparathyroidism.
What is pseudohypoparathyroidism?
Pseudohypoparathyroidism is a rare genetic disease in which cells in the body are resistant to parathyroid hormone, a hormone secreted by the parathyroid glands (small glands just behind the thyroid gland).
The parathyroid glands are small spherical glands that control the use and excretion of calcium by the body. This is possible thanks to the secretion of parathyroid hormone (PTH). This hormone is involved in the control of calcium, phosphate and vitamin D levels in the blood and bones. Calcium ions are needed not only for the proper structure of our skeleton. They are also necessary for muscles to contract.
In people with pseudohypoparathyroidism, the parathyroid glands produce and secrete adequate amounts of PTH, but the body’s cells are “resistant” to it. This leads to a reduction in blood calcium levels and an increase in phosphate levels. Pseudohypoparathyroidism requires treatment with calcium preparations.
How is pseudohypoparathyroidism manifested?
Symptoms that may suggest pseudohypoparathyroidism include:
Numbness / tingling sensation in the arms and / or legs
– muscle tetanus cramps (e.g. compulsive contortion of the hand caused by contraction of all flexor muscles),
– frequent formation of cavities in the teeth,
— cataract,
– epileptic seizures.
Varieties of pseudohypoparathyroidism
Among the several types of pseudohypoparathyroidism, there is one that, apart from the above symptoms, can manifest itself in the appearance of the sick person. This is variant Ia (called Albright’s osteodystrophy) and the affected person is characterized by:
– short stature,
– short bones of the hands (especially the metacarpals in the area of the 4th and 5th fingers),
– short neck and round face.
Do you have pseudohypoparathyroidism? Find out when to see a doctor
If you develop any of the above symptoms indicating pseudohypoparathyroidism, see your doctor. They may ask you to test your blood and urine calcium levels. If you additionally experience a feeling of palpitations, please inform your doctor. The heart is a muscle, so changing calcium levels can affect how well it works. Your doctor may then order you to perform an EKG test. If necessary, your doctor will advise you to take calcium supplements.
Check: Dwarf syndrome – a rare genetic disease
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