ELI5: Explain Like I'm 5

Combined 17α-hydroxylase/17,20-lyase deficiency

Do you know how our bodies have different parts that do different jobs? Well, our bodies have a special part called the adrenal gland, and it helps make certain hormones that are important for our body to work properly.

One of these hormones is called cortisol, which helps our body deal with stress and keeps us healthy. Another hormone is called aldosterone, which helps control the balance of salt and water in our body.

But sometimes, some people are born with a special condition called combined 17α-hydroxylase/17,20-lyase deficiency. This means that their adrenal gland does not work properly and doesn't make enough of these important hormones.

When this happens, it can cause different problems in our body. One of the problems is that our body cannot make enough cortisol. This can make us feel tired and weak, and it can also affect our growth and development.

Another problem is that our body cannot make enough aldosterone. This can make us feel thirsty all the time and make us pee more often. It can also affect the balance of salt and water in our body, which can cause problems like low blood pressure and dehydration.

But wait, there's more! The adrenal gland also makes another hormone called sex steroids, which help our body develop the way it should. But with combined 17α-hydroxylase/17,20-lyase deficiency, our body cannot make enough of these sex steroids. This can cause problems with our reproductive system, like not starting puberty or not being able to have children when we grow up.

So, if someone has combined 17α-hydroxylase/17,20-lyase deficiency, they may have symptoms like feeling tired all the time, being thirsty, peeing a lot, having low blood pressure, and having problems with their growth and development.

Doctors can help people with this condition by giving them medications that can replace the hormones their adrenal gland cannot make. This can help them feel better and grow and develop like they should.