Pseudohypoparathyroidism (PHP) 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.
Albright hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism; PHP
The parathyroid glands produce parathyroid hormone (PTH). PTH helps control calcium, phosphorus, and vitamin D levels in the blood and bone.
If you have PHP, 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.
PHP is caused by abnormal genes. There are different types of PHP. All forms are rare.
Symptoms are related to a low level of calcium and include:
People with Albright hereditary osteodystrophy may have the following symptoms:
Exams and Tests
Blood tests will be done to check calcium, phosphorus, and PTH levels. You may also need urine tests.
Other tests may include:
Your health care provider 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 PHP is usually milder than in other forms of hypoparathyroidism.
PHP may be connected to other hormone problems, resulting in:
When to Contact a Medical Professional
Contact your provider if you or your child have any symptoms of a low calcium level or pseudohypoparathyroidism.
Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 66.
Doyle DA. Pseudohypoparathyroidism (Albright hereditary osteodystrophy). In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 572.
Thakker RV. The parathyroid glands, hypercalcemia and hypocalcemia. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 245.
Review Date: 5/2/2016
Reviewed 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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