The full form of PHP in medical term is Pseudohypoparathyroidism.
Pseudohypoparathyroidism is a rare inherited disorder that affects the regulation of calcium and phosphate levels in the body. It is caused by a genetic mutation that impairs the parathyroid hormone receptor’s function, which regulates calcium and phosphate levels in the body.
In pseudohypoparathyroidism, the parathyroid hormone levels are normal or elevated, but the body is resistant to the effects of the hormone. It results in low calcium levels in the blood (hypocalcemia) and high phosphate levels (hyperphosphatemia), which can cause various symptoms.
Type 1a is the most common and is characterized by specific physical features, including short stature, round face, and short neck. Type 1b is a milder disorder with no physical features and usually no intellectual disability. Type 2 pseudohypoparathyroidism is rare and can have similar symptoms to type 1a but without characteristic physical features.
Diagnosis of pseudohypoparathyroidism involves blood tests to measure calcium and phosphate levels and genetic testing to identify the specific mutation causing the disorder. Treatment typically involves calcium and vitamin D supplements to maintain normal calcium levels and medications to lower phosphate levels in the blood.
Long-term management of pseudohypoparathyroidism may also involve regular monitoring of kidney function, as high phosphate levels can cause kidney damage over time. Individuals with pseudohypoparathyroidism need regular medical care and monitoring to prevent complications and ensure the best possible outcome.