Pseudohypoparathyroidism

Disease Overview

Pseudohypoparathyroidism (PTH) is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood.[1102]

The symptoms of PTH are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). Symptoms may also include short stature, obesity, short fingers and toes, and intellectual disability. These symptoms are usually first seen in childhood.[1102]

Diagnosis is based on the symptoms, clinical examination, laboratory tests, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. Diagnosis and treatment guidelines have been published.[16015]

There are two different types of pseudohypoparathyroidism, both of which are caused by variants in certain genes. Type 1 can be further divided into three sub-types.[1102] Click on the links below for more information on the various types of pseudohypoparathyroidism.

Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2