Pseudohypoparathyroidism type 2 (PHP2) is a rare genetic disorder that is caused by a mutation in the GNAS gene. It is characterized by a lack of response to parathyroid hormone (PTH) and is associated with a variety of physical and mental health problems. Symptoms of PHP2 include short stature, obesity, skeletal abnormalities, and learning disabilities. Treatment typically involves hormone replacement therapy and lifestyle modifications.

The symptoms of Pseudohypoparathyroidism type 2 include:

-Short stature
-Delayed bone age
-Developmental delay
-Intellectual disability
-Behavioral problems
-Seizures
-Hypotonia
-Brachydactyly (short fingers and toes)
-Round face
-Short neck
-Low calcium levels
-High phosphate levels
-Low parathyroid hormone levels
-High levels of alkaline phosphatase
-Kidney stones
-Osteopenia or osteoporosis

Pseudohypoparathyroidism type 2 is caused by a mutation in the GNAS gene, which is responsible for producing the Gs alpha protein. This protein is involved in the signaling pathway that helps regulate the production of hormones such as parathyroid hormone (PTH) and calcitonin. When the GNAS gene is mutated, it can lead to a decrease in the production of these hormones, resulting in the symptoms of pseudohypoparathyroidism type 2.

The treatment for Pseudohypoparathyroidism type 2 is focused on managing the symptoms. This may include medications to control calcium levels, vitamin D supplements, and dietary changes. In some cases, surgery may be necessary to remove the abnormal parathyroid glands. Additionally, physical therapy and occupational therapy may be recommended to help with any motor or coordination issues.

1. Genetic mutation in the GNAS gene
2. Family history of the disorder
3. Female gender
4. Low birth weight
5. Premature birth
6. Low calcium levels in the blood
7. High levels of parathyroid hormone in the blood
8. Abnormalities in the kidneys
9. Abnormalities in the bones
10. Abnormalities in the teeth

There is no cure for Pseudohypoparathyroidism type 2, but medications can be used to manage the symptoms. These medications include calcium supplements, vitamin D supplements, and medications to control calcium levels in the blood.