Pseudopseudohypoparathyroidism (PPHP) is a rare genetic disorder that is characterized by the presence of some, but not all, of the physical features associated with pseudohypoparathyroidism (PHP). People with PPHP have normal levels of parathyroid hormone (PTH) and calcium, but they may have some of the physical features of PHP, such as short stature, round face, and short fourth metacarpal.

The symptoms of Pseudopseudohypoparathyroidism include short stature, obesity, round face, short fourth metacarpal, brachydactyly, and mental retardation. Other symptoms may include hypocalcemia, hypomagnesemia, and hyperphosphatemia.

Pseudopseudohypoparathyroidism is caused by a mutation in the GNAS gene, which is responsible for producing the Gs alpha protein. This protein is involved in the regulation of hormones, such as parathyroid hormone (PTH). When the GNAS gene is mutated, it can lead to a decrease in the production of Gs alpha protein, which can result in a decrease in the production of PTH. This can lead to the symptoms of pseudopseudohypoparathyroidism.

The treatments for Pseudopseudohypoparathyroidism (PPHP) are mainly focused on managing the symptoms. This may include medications to control calcium levels, vitamin D supplements, and lifestyle changes such as increasing physical activity and reducing stress. In some cases, surgery may be necessary to remove the abnormal parathyroid glands. Additionally, genetic counseling may be recommended to help individuals and families understand the condition and its implications.

1. Family history of pseudopseudohypoparathyroidism
2. Genetic mutations in the GNAS gene
3. Low levels of calcium in the blood
4. High levels of phosphorus in the blood
5. Abnormalities in the parathyroid glands
6. Abnormalities in the kidneys
7. Abnormalities in the bones
8. Abnormalities in the pancreas
9. Abnormalities in the thyroid gland
10. Abnormalities in the adrenal glands

There is no cure for Pseudopseudohypoparathyroidism, but medications can be used to manage the symptoms. These medications include calcium and vitamin D supplements, diuretics, and bisphosphonates. Additionally, lifestyle changes such as increasing physical activity and reducing sodium intake can help to reduce the symptoms of Pseudopseudohypoparathyroidism.