Pseudohypoparathyroidism
Pseudohypoparathyroidism (pronounced: soo-doh-hy-poh-par-uh-thy-roid-iz-uhm) is a rare genetic disorder that involves the body's inability to respond to parathyroid hormone (PTH).
Etymology
The term "Pseudohypoparathyroidism" is derived from the Greek words "pseudo" meaning false, "hypo" meaning under, "para" meaning beside, and "thyroid" referring to the thyroid gland. This term was coined to describe a condition that mimics the symptoms but not the cause of hypoparathyroidism.
Definition
Pseudohypoparathyroidism is characterized by resistance to the parathyroid hormone. Individuals with this condition have a low serum calcium and high phosphate levels, but the parathyroid glands are functioning normally.
Types
There are several types of pseudohypoparathyroidism, including type 1A, 1B, 1C, and type 2. Each type is distinguished by its genetic cause and the presence or absence of certain physical features.
Symptoms
Symptoms of pseudohypoparathyroidism can vary widely in severity and may include tetany, cataracts, dental problems, and certain characteristic facial features.
Diagnosis
Diagnosis of pseudohypoparathyroidism is based on a combination of physical findings, laboratory tests, and genetic testing.
Treatment
Treatment for pseudohypoparathyroidism is focused on managing the symptoms and typically involves taking supplements to maintain normal levels of calcium and phosphate in the body.
See also
External links
- Medical encyclopedia article on Pseudohypoparathyroidism
- Wikipedia's article - Pseudohypoparathyroidism
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