Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency is a rare genetic disorder affecting the adrenal glands. This condition is part of a group of disorders known as congenital adrenal hyperplasia (CAH), which interferes with the body’s ability to produce certain hormones. Specifically, this form of CAH is caused by mutations in the CYP11B1 gene, leading to an enzyme deficiency that plays a crucial role in the production of cortisol and aldosterone. Understanding the symptoms associated with this condition is essential for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for this condition, priced at 4400 AED. For more information, visit our website.
Symptoms of CYP11B1 Gene Adrenal Hyperplasia
The symptoms of Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency can vary widely among affected individuals, ranging from mild to severe. Early detection and treatment are critical in managing the condition effectively. Some of the most common symptoms include:
- Excessive production of androgen, leading to virilization in females. This can manifest as ambiguous genitalia at birth, early pubic hair development, deepening of the voice, and excessive facial hair.
- Electrolyte imbalance due to decreased aldosterone production, which can result in dehydration, vomiting, and failure to thrive in infancy.
- High blood pressure, which can be severe and difficult to control, is a hallmark symptom due to the accumulation of precursor steroids that have mineralocorticoid effects.
- Low levels of cortisol can lead to symptoms such as fatigue, weakness, hypoglycemia, and increased susceptibility to infections.
It is crucial for individuals who exhibit these symptoms to undergo genetic testing to confirm the diagnosis of Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency. The genetic test offered by DNA Labs UAE specifically targets the CYP11B1 gene mutations responsible for this condition, providing a definitive diagnosis and guiding the treatment plan.
Understanding the Genetic Test
The genetic test for Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency involves analyzing the DNA to detect mutations in the CYP11B1 gene. This test is highly recommended for individuals with a family history of the condition or those exhibiting symptoms associated with the disorder. Conducted in a state-of-the-art laboratory, the test ensures accurate and reliable results, which are essential for effective management and treatment of the condition.
The cost of the genetic test at DNA Labs UAE is 4400 AED. This investment includes a comprehensive analysis of the CYP11B1 gene to identify any mutations that may be present. By confirming the diagnosis, the test plays a crucial role in the treatment and management of Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency, allowing for personalized treatment plans that address the specific needs of the individual.
Conclusion
Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency is a complex condition that requires early diagnosis and effective management. Understanding the symptoms associated with the disorder and undergoing genetic testing for the CYP11B1 gene mutation are critical steps in ensuring the best possible outcomes for affected individuals. DNA Labs UAE is committed to providing comprehensive and reliable genetic testing services, including the test for Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency, priced at 4400 AED. For more information and to schedule a test, please visit our website.
