Albrights hereditary osteodystrophy
Pseudohypoparathyroidism is a genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone), but is caused by a lack of response to parathyroid hormone rather than having too little of the hormone itself.
Alternative NamesAlbright's hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism
Parathyroid hormone is a hormone produced by the parathyroid glands that helps regulate calcium and phosphate levels in the blood. The effects of PTH are seen in several body systems including the skeletal, gastrointestinal, renal (kidney), muscular, and central nervous system.
In pseudohypoparathyroidism, there is enough PTH, but the body cannot respond to it. The body is "resistant" to the effects of PTH. As a result, pseudohypoparathyroidism is very similar to hypoparathyroidism, with low calcium levels and high phosphate levels in the blood. This results in the characteristic symptoms which are generally first seen in childhood.
There are two different types of pseudohypoparathyroidism, both of which are caused by abnormal genes. Type I can be further divided into two sub-types: type Ia is caused by a one-gene abnormality, inherited in an autosomal dominant manner (only one parent needs to have the gene for the child to inherit it). This defect also causes short stature, round face, and short hand bones, and is also called Albright's hereditary osteodystrophy.
Type Ib is characterized by resistance to PTH only in the kidneys. As a result, the calcium and phosphate problems are seen, but not the rest of the syndrome. Type Ib is less understood than type Ia. Type II is very similar to type I in its clinical features, but the events that take place in the kidneys are different.
When Albright's hereditary osteodystrophy occurs without hypocalcemia (low levels of calcium in the blood), it is known as pseudopseudohypoparathyroidism.
All forms of pseudohypoparathyroidism are very rare.
Symptoms are related to low levels of calcium and include sensations of numbness and seizures.
Exams and Tests
Signs related to Albright's hereditary osteodystrophy include:
- Short stature
- Round face and short neck
- Brachydactyly (short hand bones, especially the bone below the 4th finger)
- Subcutaneous (under the skin) calcification
- Dimples can replace knuckles on affected digits
Signs of hypocalcemia include:
- Tetany (a collection of symptoms including muscle twitches and hand and foot spasms)
- Dental abnormalities
Hypocalcemia typically begins in childhood.
Tests may show:
- Low serum calcium
- Elevated serum phosphate
- Elevated intact PTH
- Abnormal urinary cAMP response to PTH challenge (Type Ia and Ib)
- Abnormal gene testing
- Head MRI or CT scan of the brain showing characteristic changes
Treatment consists of calcium and vitamin D supplements, to maintain high calcium levels without the help of PTH. If serum phosphate stays high, a low-phosphorus diet or phosphate binders (such as calcium carbonate, calcium acetate, or sevelamer HCl) may be necessary.
Hypocalcemia in pseudohypoparathyroidism is usually milder 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 associated with pseudohypoparathyroidism may include seizures and other endocrine problems, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased weight.
When to Contact a Medical Professional
Call your health care provider if you or your child have any symptoms of hypocalcemia or other features of pseudohypoparathyroidism.