Here's a breakdown of the name:
* Pseudo: This means "false" or "mimicking".
* Hypoparathyroidism: This refers to a condition where the parathyroid glands don't produce enough parathyroid hormone.
* Pseudohypoparathyroidism: This is a condition where the body doesn't respond properly to parathyroid hormone, even though the parathyroid glands are functioning normally.
Therefore, pseudopseudohypoparathyroidism (PPHP) is a condition that mimics the symptoms of hypoparathyroidism (low levels of parathyroid hormone) but is caused by a resistance to parathyroid hormone rather than a deficiency of it.
Symptoms of PPHP:
* Short stature
* Round face
* Short fingers and toes
* Intellectual disability
* Seizures
* Kidney problems
Causes of PPHP:
PPHP is caused by a genetic mutation that affects the GNAS gene. This gene is responsible for producing a protein that helps parathyroid hormone bind to its receptors. The mutation causes a resistance to parathyroid hormone, leading to the symptoms of hypoparathyroidism.
Treatment of PPHP:
There is no cure for PPHP. Treatment focuses on managing the symptoms, which may include:
* Calcium supplements
* Vitamin D supplements
* Hormone replacement therapy
If you have any concerns about PPHP, please consult a healthcare professional.