Pseudohypoparathyroidism Overview
Learn About Pseudohypoparathyroidism
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 regulate 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.
- Type 1a is inherited in an autosomal dominant manner. That means only one parent needs to pass you the variant gene for you to have the condition. It is also called Albright hereditary osteodystrophy. The condition causes short stature, round face, obesity, developmental delay, and short hand bones. Symptoms depend on whether you inherit the gene from your mother or father.
- Type 1b involves resistance to PTH only in the kidneys. Less is known about type 1b than type 1a. Calcium in the blood is low, but there are none of the other characteristic features of Albright hereditary osteodystrophy.
- Type 2 also involves low blood calcium and high blood phosphate levels. People with this form do not have the physical traits common to people with Type 1a. The genetic abnormality that causes it is not known. It is different from Type 1b in how the kidney responds to high PTH levels.
Symptoms are related to a low level of calcium and include:
- Cataracts
- Dental problems
- Numbness
- Seizures
- Tetany (a collection of symptoms including muscle twitches and hand and foot cramps and muscle spasms)
People with Albright hereditary osteodystrophy may have the following symptoms:
- Calcium deposits under the skin
- Dimples that can replace knuckles on affected fingers
- Round face and short neck
- Short hand bones, especially the bone below the 4th finger
- Short height
Your health care provider will recommend calcium and vitamin D supplements to maintain a proper blood 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.
Giovanna Mantovani practices in Sao Paulo, Brazil. Ms. Mantovani is rated as an Elite expert by MediFind in the treatment of Pseudohypoparathyroidism. Her top areas of expertise are Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, Progressive Osseous Heteroplasia, Endoscopic Transnasal Transsphenoidal Surgery, and Hormone Replacement Therapy (HRT).
Harald Jueppner is a Pediatrics specialist and a Nephrologist in Boston, Massachusetts. Dr. Jueppner is rated as an Elite provider by MediFind in the treatment of Pseudohypoparathyroidism. His top areas of expertise are Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, Nephrocalcinosis, Milk-Alkali Syndrome, and Kidney Transplant.
Agnes Linglart practices in Paris, France. Ms. Linglart is rated as an Elite expert by MediFind in the treatment of Pseudohypoparathyroidism. Her top areas of expertise are X-Linked Hypophosphatemia, Rickets, Hypophosphatemia, Pseudohypoparathyroidism, and Osteotomy.
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.
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:
- Low sex drive
- Slow sexual development
- Low energy levels
- Weight gain
Contact your provider if you or your child have any symptoms of a low calcium level or pseudohypoparathyroidism.
Background: Parathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling. PTH, the main secretory product of parathyroid glands is responsible for regulation of calcium-phosphate homeostasis.
Summary: We, the researchers, are following the natural history of Albright hereditary osteodystrophy. We have found that growth hormone deficiency is very common in patients with pseudohypoparathyroidism type 1A, which falls under the broader condition termed Albright hereditary osteodystrophy. Patients with pseudohypoparathyroidism type 1A typically are short and obese. Some of these patients are not sho...
Published Date: May 20, 2024
Published 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.
Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations that reduce Gsa activity. In: Robertson RP, ed. DeGroot's Endocrinology. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 57.
Hanley PC, Doyle DA. Pseudohypoparathyroidism. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 612.
Thakker RV. The parathyroid glands, hypercalcemia, and hypocalcemia. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 227.