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Alternative Names Return to topAlbright's hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism
Definition Return to top
Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body's lack of response to parathyroid hormone rather than decreased production of the substance.
Causes Return to top
The parathyroid glands help control calcium use and removal 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.
Persons 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. All forms of pseudohypoparathyroidism are very rare.
Type Ia 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 condition causes short stature, round face, and short hand bones, and is also called Albright's hereditary osteodystrophy.
Type Ib involves resistance to PTH only in the kidneys. 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.
Type 2 pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels, but persons with this form do not develop the physical characteristics seen in those with Type 1a.
All forms of pseudohypoparathyroidism are very rare.
Symptoms Return to top
Symptoms are related to low levels of calcium and include:
Persons with Albright's hereditary osteodystrophy may have the following symptoms:
Exams and Tests Return to top
Blood tests will be done to check calcium, phosphorus, and PTH levels. Urine tests may also be done.
Other tests may involve:
Treatment Return to top
Calcium and vitamin D supplements are prescribed to maintain proper 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.
Outlook (Prognosis) Return to top
Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of hypoparathyroidism.
Possible Complications Return to top
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 Return to top
Call your health care provider if you or your child have any symptoms of hypocalcemia or other features of pseudohypoparathyroidism.
References Return to top
Wysolmerski JJ. Insogna KL. The Parathyroid Glands, Hypercalcemia, and Hypocalcemia. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2008: chap. 266.
Bringhurst FR, Demay MB, Kronenberg HM. Disorders of Mineral Metabolism. In: Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo: WB Saunders; 2008: chap. 27.Update Date: 7/15/2008 Updated by: Robert Cooper, MD, Endocinology Specialist and Chief of Medicine, Holyoke Medical Center, Assistant Professor of Medicine, Tufts University School of Medicine, Boston MA Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.