Are you familiar with the condition known as congenital adrenal hyperplasia as it relates to infertility?
If the answer is no—you aren’t alone.
This is a relatively rare condition that many or even most people have never heard of.
What is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia is an inability of the adrenal glands to produce cortisol. The adrenal glands, which are two walnut sized organs on top of the kidneys, produce hormones.
The inner portion of the adrenal gland is called the medulla. It produces adrenaline. The outer part of the adrenal gland is called the cortex.
Normally, it is the cortex that produces cortisol, male type hormones called androgens that are produced by both genders, and aldosterone, which is a salt retaining hormone.
Severe Congenital Adrenal Hyperplasia
This is the form of congenital adrenal hyperplasia that occurs at birth or during early infancy.
Newborns with this condition are born with enlarged adrenal glands. They are unable to produce enough cortical, so their bodies try to compensate by growing larger adrenal glands, in an effort to produce more cortisol.
Children suffering from severe Congenital Adrenal Hyperplasia often have facial hair and masculine features. Baby girls born with this condition sometimes have genitals which look more like male genitalia than female.
These children have poorly functioning immune systems. They are susceptible to colds and other viruses.
As they get older, they do grow, but growth usually stops before puberty. So, most people with Congenital Adrenal Hyperplasia are of short stature. The lack of development of the reproductive system also means they will suffer from infertility.
Mild Congenital Adrenal Hyperplasia
People with the mild type of Congenital Adrenal Hyperplasia are often not diagnosed until they decide to have children and discover they are infertile.
These people are usually of normal height and appear physically normal. They often have poor immune systems and suffer more illnesses or longer lasting colds than other people.
Some women with Congenital Adrenal Hyperplasia may have slightly abnormal looking genitals, but this is not always the case. These women may have irregular periods and difficulty in getting pregnant, but it is often the last thing a fertility specialist screens for when she seeks help.
Congenital adrenal hyperplasia can be diagnosed by blood testing.
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