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Pseudohypoparathyroidism

Albright hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism; PHP

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. 

Images

Endocrine glands
Parathyroid glands

Causes

The parathyroid glands produce parathyroid hormone (PTH). PTH helps control calcium, phosphorus, and vitamin D levels in the blood and is important for bone health.

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 and are usually diagnosed in childhood.

Symptoms

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:

Treatment

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). Treatment is usually life-long.

Outlook (Prognosis)

Low blood calcium in PHP is usually milder than in other forms of hypoparathyroidism, but the severity of symptoms can be different between different people.

Possible Complications

People with type 1a PHP are more likely to have other endocrine system problems (such as hypothyroidism and hypogonadism).

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.

Related Information

Hypoparathyroidism
Parathyroid hormone (PTH) blood test
Renal
Central nervous system
Hypothyroidism
Hypogonadism

References

Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations. 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, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 590.

Thakker RV. The parathyroid glands, hypercalcemia and hypocalcemia. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 232.

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Review Date: 4/29/2022  

Reviewed By: Sandeep K. Dhaliwal, MD, board-certified in Diabetes, Endocrinology, and Metabolism, Springfield, VA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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