Symptoms of CAH Deletion and Duplication
Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands. These glands are responsible for producing hormones that regulate various functions within the body, including metabolism, immune system, blood pressure, and stress response. CAH is characterized by a deficiency in one of the enzymes needed for the adrenal glands to produce these hormones properly. This deficiency can lead to a range of symptoms, which vary depending on the specific type of CAH, its severity, and the age at which it presents.
Common symptoms of CAH due to enzyme deficiency include:
- Virilization: This refers to the development of male physical characteristics in females, such as excessive facial hair and a deep voice.
- Ambiguous genitalia: Newborn girls may have an enlarged clitoris or fused labia, resembling male genitals.
- Early puberty: Children with CAH may experience signs of puberty at a very young age, including the development of pubic hair, rapid growth, and acne.
- Delayed or absent menstruation: Females with CAH may experience irregular menstrual cycles or amenorrhea.
- Infertility: CAH can affect fertility in both males and females due to hormonal imbalances.
- Salt-wasting crisis: This is a life-threatening condition that can occur in some forms of CAH, leading to dehydration, vomiting, diarrhea, and shock.
It is crucial for CAH to be diagnosed early to manage symptoms effectively and prevent potential complications. One way to diagnose CAH is through genetic testing for deletions and duplications in the genes responsible for the condition.
CAH Deletion and Duplication Detection Test
The CAH Deletion and Duplication Detection Test is a specialized genetic test designed to identify deletions and duplications in the genes associated with Congenital Adrenal Hyperplasia. This test is critical for confirming a diagnosis of CAH and can help guide treatment decisions. By understanding the specific genetic mutations involved, healthcare providers can tailor treatments to the individual’s needs, potentially improving outcomes.
The test is performed using a blood sample, from which DNA is extracted and analyzed for specific genetic changes. It is a comprehensive test that looks for abnormalities in the genes known to be linked to CAH, providing a definitive diagnosis for affected individuals.
For families in the United Arab Emirates, DNA Labs UAE offers this crucial test. The cost of the CAH Deletion and Duplication Detection Test is 2100 AED. Given the importance of early diagnosis and intervention in managing CAH, this test represents a valuable investment in a child’s health and well-being.
For more information on the CAH Deletion and Duplication Detection Test and to schedule a test, please visit DNA Labs UAE.
