Pseudohypoparathyroidism type 1B (PHP1B) is a rare genetic disorder that is characterized by a resistance to the hormone parathyroid hormone (PTH). People with PHP1B have normal levels of PTH in their blood, but their bodies do not respond to it. This leads to a variety of symptoms, including short stature, skeletal abnormalities, and mental retardation. PHP1B is caused by a mutation in the GNAS gene, which is responsible for producing the G-protein that is necessary for PTH to work properly.

The symptoms of Pseudohypoparathyroidism type 1B can vary from person to person, but may include:

-Short stature

-Delayed bone age

-Brachydactyly (short fingers and toes)

-Round face

-Low calcium levels

-High levels of parathyroid hormone

-Abnormalities in the kidneys and urinary tract

-Developmental delays

-Intellectual disability

-Behavioral problems

-Seizures

-Hypothyroidism

-Obesity

-Cataracts

-Hearing loss

Pseudohypoparathyroidism type 1B 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 1B.

The primary treatment for Pseudohypoparathyroidism type 1B is hormone replacement therapy. This involves taking daily doses of parathyroid hormone (PTH) to replace the missing or defective hormone. Other treatments may include calcium and vitamin D supplements, as well as medications to control calcium levels in the blood. In some cases, surgery may be necessary to remove the abnormal parathyroid glands.

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

Yes, there is a cure for Pseudohypoparathyroidism type 1B. Treatment typically involves a combination of medications, such as calcium and vitamin D supplements, and hormone replacement therapy. In some cases, surgery may be necessary to correct the underlying cause of the condition.