Pseudohypoparathyroidism overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Pseudohypoparathyroidism is characterized by end organ resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is appropriately high. Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.
The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body's lack of response to parathyroid hormone rather than decreased production of the substance. There are three types of pseudohypoparathyroidism, type 1a, type 1b and type 2. All forms of pseudohypoparathyroidism are very rare and are caused by abnormal genes. Usual signs and symptoms include numbness, tetany, seizures, cataracts and dental problems. Patients with pseudohypoparathyroidism type 1a, which is also called Albright's hereditary osteodystrophy, may show signs of short stature. Blood tests of minerals, genetic testing and head MRI may help diagnose the disorder. Treatment for pseudohypoparathyroidism includes taking calcium carbonate and vitamin D supplements to normalize blood levels of calcium and phosphorus.