Familial isolated hypoparathyroidism due to agenesis of parathyroid gland is a rare genetic disorder that affects the parathyroid glands, which are responsible for producing the hormone parathyroid hormone (PTH). This disorder is caused by the absence of one or more of the four parathyroid glands, resulting in a deficiency of PTH. This can lead to a variety of symptoms, including low calcium levels, muscle spasms, and seizures. Treatment typically involves calcium and vitamin D supplementation, as well as hormone replacement therapy.

The symptoms of Familial isolated hypoparathyroidism due to agenesis of parathyroid gland include:

-Muscle cramps

-Tingling and Numbness in the hands and feet

-Seizures

-Fatigue

-Depression

-Irritability

-Abnormal heart rhythms

-Abnormal calcium levels in the blood

-Abnormal magnesium levels in the blood

-Abnormal phosphorus levels in the blood

-Abnormal alkaline phosphatase levels in the blood

-Abnormal kidney function tests

-Abnormal liver function tests

-Abnormal thyroid function tests

-Abnormal growth and development in children

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland is caused by a genetic mutation in the gene that is responsible for the development of the parathyroid gland. This mutation can be inherited from either parent or can be a spontaneous mutation.

1. Oral calcium and active vitamin D supplementation: This is the mainstay of treatment for familial isolated hypoparathyroidism due to agenesis of the parathyroid gland. Calcium and active vitamin D supplementation helps to maintain normal calcium levels in the blood and prevent the development of hypocalcemic symptoms.

2. Intravenous calcium gluconate: This is used to treat acute hypocalcemic symptoms such as tetany, seizures, and muscle spasms.

3. Parathyroid hormone replacement therapy: This is used to treat patients with severe hypocalcemia who are unresponsive to oral calcium and active vitamin D supplementation.

4. Surgery: In some cases, surgery may be necessary to implant a parathyroid gland or to remove a tumor that is causing the hypoparathyroidism.

1. Family history of hypoparathyroidism
2. Genetic mutations in the CASR, GCM2, or HRPT2 genes
3. Maternal diabetes
4. Maternal autoimmune thyroid disease
5. Maternal use of certain medications, such as lithium, during pregnancy
6. Premature birth
7. Low birth weight
8. Exposure to certain environmental toxins, such as lead or mercury

Yes, there is a cure for Familial Isolated Hypoparathyroidism due to Agenesis of Parathyroid Gland. The treatment involves lifelong supplementation of calcium and vitamin D, as well as daily injections of parathyroid hormone (PTH). In some cases, surgery may be necessary to implant a parathyroid gland. Additionally, medications such as calcitriol, calcitonin, and bisphosphonates may be prescribed to help regulate calcium levels.