Question
My child was taken for a detailed blood test shortly after birth, and today I received a call from the hospital saying they suspect congenital adrenal cortical fibrosis. They want us to undergo further tests. I searched online and found that this is a genetic disease. Neither my family nor my daughter’s family has this condition, so I think there must have been a mistake in the test. Since my information came from the internet, I’m not entirely sure about it, and I’m also quite anxious and having stomach problems. Please help me understand this situation better. If the diagnosis is confirmed, what should we do? If it’s not, what might be the reasons for the test error? Thank you.
Answer
I’m glad to help you clarify this matter. Congenital adrenal cortical hyperplasia is a disease caused by a deficiency in the enzyme responsible for synthesizing cortisol hormone in the adrenal cortex, leading to changes in cortisol levels. Do not panic just yet. You can first follow up with your doctor and have regular blood tests to monitor your child’s condition. It’s usually recommended to repeat the blood tests every 2 to 3 weeks, and closely observe any symptoms your child may have. Based on the results of the blood tests, we can determine how to treat this condition. Next, we need to identify which type of enzyme deficiency we are dealing with, and then implement additional treatment based on that.