Pseudohypoparathyroidism is a genetic disorder in which the body fails to respond to parathyroid hormone.
A related condition is hypoparathyroidism, in which the body does not make enough of the hormone.
Albright's hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism
Causes, incidence, and risk factors
The parathyroid glands produce parathyroid hormone, or PTH. PTH helps control calcium, phosphorus, and vitamin D levels within the blood and bone.
If you have pseudohypoparathyroidism, your body produces the right amount of PTH, but is "resistant" to its effect. This causes low blood calcium levels and high blood phosphate levels.
Pseudohypoparathyroidism is caused by abnormal genes. There are different types of pseudohypoparathyroidism. All forms of are rare.
Type Ia is inherited in an autosomal dominant manner. That means only one parent needs to pass you the faulty gene in for you to have the condition. The condition causes short stature, round face, and short hand bones. It also called Albright's hereditary osteodystrophy.
Type Ib involves resistance to PTH only in the kidneys. Less is known about type Ib than type Ia. Many of the features are similar but the events that take place in the kidneys are different.
Type II pseudohypoparathyroidism also involves low blood calcium and high blood phosphate levels. People with this form of the disorder do not have the physical traits common to people with Type Ia.
Symptoms are related to low levels of calcium and include:
Your doctor will recommend calcium and vitamin D supplements to maintain proper calcium levels. If blood phosphate levels are high, you may need to follow a low-phosphorus diet or take medicines called phosphate binders (such as calcium carbonate or calcium acetate).
Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of hypoparathyroidism.
People with type Ia pseudohypoparathyroidism are more likely to have other endocrine system problems (such as hypothyroidism and hypogonadism).
Low blood calcium in pseudohypoparathyroidism is often milder than in other forms of hypoparathyroidism.
Pseudohypoparathyroidism may be connected to other hormone problems, resulting in:
Low sex drive
Slow sexual development
Low energy levels
Calling your health care provider
Call your health care provider if you or your child has any symptoms of low calcium levels or pseudohypoparathyroidism.
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; 2011:chap 28.
Doyle DA. Hypoparathyroidism. In: Kliegman RM, Stanton BM, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 565.
Shehzad Topiwala, MD, Chief Consultant Endocrinologist, Premier Medical Associates, The Villages, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.