Congenital Adrenal Hyperplasia (CAH) is a combination of inherited disorders that impacts the adrenal glands. These glands are small organs in the form of a walnut and lie above each kidney. These glands produce hormones, which the body needs for proper functioning. Any disturbance in these hormones can cause symptoms that can adversely affect sexual development.

The hormones include:

Cortisol:

- It helps the body to fight illness, injury, and tension. Blood pressure and blood sugar is also regulated.

Aldosterone:

- This hormone is responsible for the right balance of salt and water.

Androgen:

- Male sex hormones that develop and maintain masculine features in men.

Intake of various steroids that replace the lost hormones in the body are some types of suitable treatments.

Types of CAH

2 major types of CAH are known to exist:

Classic CAH: A rare type and more grave. Mainly found when a woman conceives or in early infants.
Nonclassic CAH: This type is more common. Noticeable later in childhood or when one reaches adulthood.

Causes

CAH is an inherited condition. It means one acquires this condition when they are born.
A shortage in the enzyme 21-hydroxylase is the known cause of CAH. Mutation due to an alter in the gene’s DNA pattern affects this enzyme.
CAH is the result of a mutated copy of the genes from both the parents. A person will be acquiring 2 copies of each gene in the body- one from every parent.

Symptoms

Depending on the type and symptoms of CAH, it can include:

1) Classic CAH

An adrenal crisis that involves lack of cortisol, aldosterone, or both is noticeable in people with this condition. This can lead to blood pressure problems and blood sugar irregularities. Illness can also be visible in some patients.
Cortisol that is required by the body is not acquired by the body in this unhealthy condition. This can lead to problems in blood pressure and blood sugar.
Assigned females at birth (AFAB) can have ambiguous genitalia where irregular genital organs can develop, and it will be hard to identify a female from a male. For example, the clitoris may be so big that it may look like a male penis.
Too much androgen. Excess production of male sex hormones can result in decreased height and initial signs of puberty. For example, pubic hair can appear at an early stage.
Change in growth. Growth may be fast in some children.

Besides these imbalances in the hormone due to salt-wasting, CAH can lead to various adrenal symptoms, such as:

Dehydration
Low blood pressure
Irregular heartbeat
Vomiting
Diarrhea
Loss in weight

2) Nonclassic CAH

Acne
Initial signs of puberty
Improper menstrual periods in females
An excess of body or facial hair in women
Male-pattern baldness
Fertility issues in women
Rapid growth in early years and early teens

Diagnosis

In the case of classic CAH, the healthcare expert will screen the newborn for CAH, which is a normal part for newborn screening. A blood test may be carried out to find out the presence of classic CAH. Prenatal genetic tests can also be done, especially if the woman is pregnant and is having one child with CAH.

In the case of nonclassic CAH, the below mentioned tests are carried out:

Physical examination
Genetic test
Blood test
Urine test

Treatment Options for CAH

The end goal of treating CAH is to decrease the amount of excess androgen and make for the loss of deficit hormones.
Individuals with classic CAH have to take hormone replacement drugs in their whole life, whereas patients with nonclassic CAH may or may not need treatment depending on their symptom and gender.

The drugs for classic CAH can include:

Salt supplements:

The newborn child may need salt supplements.

Mineralocorticoids:

They replace aldosterone when the body is not capable of making it on its own.

Glucocorticoids:

Glucocorticoids replace the cortisol that the body is unable to make on its own. An extra amount of these hormones may be needed in times of stress or illness.

Prevention

As this is an inborn condition that is inherited at birth, so it is not possible to prevent it. If one has a family history of CAH or a woman conceives a child with this condition, then genetic counseling or testing can be considered.