Also Called Albright’s Hereditary Osteodystrophy
Types 1A and 1B pseudohypoparathyroidism
Pseudohypoparathyroidism is really a genetic dysfunction which is comparable to hypoparathyroidism, but which results from the body’s lack of reaction to the parathyroid hormone instead of lowered production of the hormone.
Causes, incidence, and risk factors
The parathyroid glands help control calcium use and elimination by the body. They do this by producing parathyroid hormone, or PTH. PTH helps control calcium, phosphorus, and vitamin D levels within the blood and bone.
People with pseudohypoparathyroidism produce the right amount of PTH, but the body is “resistant” to its effect. This causes low blood calcium levels and high blood phosphate levels.
Pseudohypoparathyroidism is caused by abnormal genes.
Type 1A is inherited in an autosomal dominant manner. That means only one parent needs to pass you the defective gene in order for you to develop the condition. The syndrome causes short stature, round face, and short hand bones, and is also called Albright’s hereditary osteodystrophy.
Type 1B involves resistance to PTH only in the kidneys. Type 1B is less understood than type 1A. Type 2 is very similar to type 1 in its clinical features, but the events that take place in the kidneys are different.
Type 2 pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels, but persons with this type do not develop the physical features seen in those with Type 1A.
All forms of pseudohypoparathyroidism are very rare.
Symptoms of pseudohypoparathyroidism
Symptoms are related to low levels of calcium and include:
Tetany (a assortment of symptoms including muscle twitches and hand and foot spasms)
Persons with Albright’s hereditary osteodystrophy ( Pseudohypoparathyroidism ) often have the following symptoms:
Calcium deposits beneath the skin
Dimples that can replace knuckles on affected fingers
Rounded face and short neck
Short hand bones, especially the bone below the 4th finger
Signs and tests
Blood tests will be done to check calcium, phosphorus, and PTH levels. Urine tests may also be done.
Other tests may involve:
Head MRI or CT scan of the brain
Treatment of the Pseudohypoparathyroidism
Calcium and vitamin D supplements are prescribed to maintain correct calcium levels. If blood phosphate levels remain high, a low-phosphorus diet or medicines called phosphate binders (such as calcium carbonate or calcium acetate) may be necessary.
Low blood calcium in pseudohypoparathyroidism is usually less severe than in other forms of hypoparathyroidism.
Patients with type Ia pseudohypoparathyroidism have an increased rate of other endocrine abnormalities (such as hypothyroidism and hypogonadism).
Complications of hypocalcemia connected with pseudohypoparathyroidism could include things like seizures and other endocrine issues, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased bodyweight.
Contacting your doctor
Call your doctor if you or your child have any symptoms of hypocalcemia or other features of pseudohypoparathyroidism.
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