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 parathyroid hormone.
The parathyroid glands produce parathyroid hormone (PTH). PTH helps control calcium, phosphorus, and vitamin D levels in 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 are rare.
Symptoms are related to a low level of calcium and include:
Persons with Albright hereditary osteodystrophy may have the following symptoms:
Blood tests will be done to check calcium, phosphorus, and PTH levels. You may also need urine tests.
Other tests may include:
Your doctor will recommend calcium and vitamin D supplements to maintain a proper calcium level. If the blood phosphate level is 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.
Pseudohypoparathyroidism may be connected to other hormone problems, resulting in:
Call your health care provider if you or your child has any symptoms of a low calcium level or pseudohypoparathyroidism.
Albright hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism
Al-Azem H, Khan AA. Hypoparathyroidism. Best Pract Res Clin Endocrinol Metab. 2012; 26:517-522.
Bringhurst FR, DeMay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 28.
Doyle DA. Hypoparathyroidism. In: Kliegman RM, Stanton BF, St. Geme JW III, et al., eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 565.
Updated by: Brent Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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