Hormonal Hitch: How Congenital Adrenal Hyperplasia Affects Fertility

A collection of hereditary diseases that affect the adrenal glands collectively is referred to as congenital adrenal hyperplasia (CAH). The adrenal glands are a pair of walnut-sized organs that are situated above the kidneys. They are responsible for producing important hormones like cortisol, mineralocorticoids like aldosterone, and androgens like testosterone which are required for growth and development in both males and females. In individuals that have CAH, a gene mutation results in a lack or absence of one of the enzymes that are needed to produce the above-listed hormones. It can be seen as a hormonal hitch and we will discuss how congenital adrenal hyperplasia affects fertility.

What are the Types of CAH?

Two types of CAH exist and make up about 95% of all cases, and they are:

Classic CAH 

This is the rarer and more severe form. It is usually detected at birth. It can cause adrenal complications like shock or coma. Also, it can be fatal if it is not found out and treated early enough. There are two subtypes of classic CAH, they are:

• Salt-wasting CAH – This is the most severe form of CAH. In this instance, the adrenal glands produce too little aldosterone. Without aldosterone, the body cannot regulate the sodium blood levels. This results in the loss of sodium from the body through urine. In addition to this, the body produces too little cortisol and too much androgens.
• Simple-virilizing CAH – This is also referred to as non-salt wasting CAH; it is the more moderate form. In this type, the aldosterone deficiency is less severe. There are no life-threatening symptoms, but the body still produces too much androgens and not enough cortisol.  

Non-classic CAH – This form is more common and milder. It may not be identified until childhood or in early adulthood. The individual may not notice the symptoms. The overproduction of androgens may cause symptoms that are related to sexual development.

What is the Cause of CAH?

The absence of the 21-hydroxylase enzyme is the most frequent cause of CAH. This is why CAH is sometimes referred to as 21-hydroxylase deficiency. The enzyme is crucial in the production of proper amounts of hormones by the body. CAH is a genetic disorder; it is also passed down from the parents to the offspring. Children with this condition have two parents who are either carriers of the genetic mutation that causes it or who have the CAH themselves. This is referred to as an autosomal recessive inheritance pattern.

What are the Symptoms of CAH?

The symptoms vary and are dependent on the gene that is affected and the level of enzyme deficiency that is experienced. The imbalance of hormones that the body needs may mean that there is too little cortisol, too little aldosterone, excess androgens, or a combination of these imbalances.

Classic CAH 

The signs and symptoms seen may include:

• Insufficient cortisol – The production of insufficient amounts of the cortisol hormone may lead to issues in maintaining normal blood pressure, energy levels, and blood sugar levels. It may also lead to illness and problems when the individual undergoes physical stress.
• Adrenal crises – The lack of sufficient amounts of cortisol, aldosterone, or both can seriously affect individuals with classic CAH. It can also be life-threatening.
• Atypical genitalia – Female infants may have an unusual genital appearance like an enlarged clitoris that has the appearance of a penis, or a partially closed labia that may resemble a scrotum. The urethral and the vaginal openings may merge into one instead of two separate openings. The internal reproductive organs like the uterus, ovaries, and fallopian tubes are usually typical. The male infants have normal external and internal genitals.
• Changes in growth – Rapid growth with advanced bone age can occur during childhood. However, the final height may be shorter than the average.
• Excess androgen – This can result in shorter height and early puberty in both males and females. Pubic hair and other signs of puberty may also appear at a very early age. Severe acne may also be present.
• Fertility issues – These usually include irregular or a total lack of menstrual periods. Infertility issues are usually present in the females and occasionally in the males.

Non-classic CAH 

The symptoms do not appear or are not noticed when the baby is born. Some individuals never present any symptoms. In others, it usually becomes evident in their late childhood or early adulthood. Cortisol may be the only hormone that is deficient in that case. Females may experience the following later in their life:

• Some masculine characteristics like excessive body hair, facial hair, and deepening voice
• Menstrual cycles that are irregular or nonexistent. 
• Infertility

There may also be the following signs in males and females:

• Severe acne
• Early appearance of pubic hair and other signs of puberty appearing early
• Rapid growth during childhood and a shorter-than-expected final height

How is Congenital Adrenal hyperplasia diagnosed?

Classic CAH – The baby will be screened for CAH before they leave the hospital, as one of the routine tests done for babies. An individual may also consider carrying out a prenatal genetic test in the case that they already have one child with CAH. It can be done via amniocentesis or chorionic villus sampling.

Non-classic CAH – The diagnosis of non-classic CAH may not happen until the child or the individual starts to display some of the symptoms of the condition. This may not happen in some cases till early adulthood. The tests carried out may be a physical examination, blood test, urine test, or genetic test.

How is CAH treated?

There is no cure for this condition, but there is a symptomatic treatment that may provide relief. The treatment is also dependent on how severe the symptoms being experienced are.

Classic CAH – The condition will be monitored by the individual’s doctor, and a regular blood test to know the hormone levels will be ordered. The treatment aims to ensure the normal growth and sexual development of the individual. Several medications to handle the different symptoms may be prescribed; these include:

• Salt supplements
• Mineralocorticoids
• Glucocorticoids

These medications would be taken daily for life if the individual has classic CAH, or else the symptoms will return. Surgery can also be used to treat ambiguous genitalia. In some cases, however, it may be appropriate to delay the surgery for years.

Non-classic CAH – In the case that the individual is not presenting any symptoms, they may not need any treatment. If their symptom is mild, they may need a low dose of glucocorticoids. The treatment is not lifelong. Mental healthcare is also an essential aspect of CAH treatment, and it can help improve the quality of life of the affected person.

Is there any way to prevent CAH? 

There is no way to prevent this because it is genetic. When there is a family history of the condition or in the case that they have a child with CAH, the individual may have to consider getting genetic counseling in addition to genetic testing.

What is the outlook for the condition?

With early detection and treatment, the affected person can have a healthy and productive life. In classic CAH, the person will take the medications daily for life. Most people with CAH have good health but are usually shorter than other adults. In some cases, the condition can affect the fertility of the individual. 

In situations where the affected individuals cannot have children, they may seek assisted reproductive techniques to boost their chances of having children. This may be through In vitro fertilization or surrogacy. Genetic testing is crucial in these cases so that they make sure that they are not passing the disease to their offspring. Individuals in countries that do not have advanced genetic testing capabilities can benefit from medical tourism. This can be achieved through overseas medical treatment, which is offered by medical travel agencies otherwise called meditour agencies. This can be considered as a form of health tourism.