Congenital Adrenal Hyperplasia Definition, Reason, Symptoms, Treatment & Prevention
Understanding
A congenital adrenal hyperplasia is a group of genetic disorders that affect the adrenal glands. These are a pair of walnut-sized organs located above the kidneys.
A person with congenital adrenal hyperplasia is deficient in one of the enzymes used by the adrenal glands to produce hormones that help regulate metabolism, the immune system, blood pressure, and other essential bodily functions.
Congenital adrenal hyperplasia affects the production of one or more of three steroid hormones, namely:
- Cortisol, which regulates the body’s response to illness or stress
- Mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels in the blood
- Androgens, like testosterone, are sex hormones
In most cases, congenital adrenal hyperplasia results in decreased cortisol production and increased androgen production. A milder and more common version is called non-classical congenital adrenal hyperplasia. Meanwhile, the classic version can show more severe clinical manifestations.
Symptom
Signs and symptoms of congenital adrenal hyperplasia can vary, depending on the gene that is damaged and the degree of enzyme deficiency that occurs.
There are two main types of congenital adrenal hyperplasia, namely:
- Classic congenital adrenal hyperplasia, which is the more severe version, is usually detected at a very early age.
- Nonclassical congenital adrenal hyperplasia, which is a milder version and is more common, usually does not cause symptoms until childhood or young adulthood.
Signs and symptoms of classic congenital adrenal hyperplasia may include:
- In women, an enlarged clitoris or appearance of genitalia that is more like a man than a woman ( ambiguous genitalia ) can be seen at birth, but men can have genitals that look normal.
- Disease due to decreased cortisol, aldosterone, or both (adrenal crisis), which can be life-threatening.
- In children, pubic hair can be seen at a relatively early age.
- Rapid growth in childhood, but final height is generally shorter than average.
Signs and symptoms of non-classical congenital adrenal hyperplasia may include:
- Although adolescent and adult women may have a normal genital appearance at birth, later signs and symptoms include irregular or absent menstruation, masculine characteristics such as facial hair, excess body hair, and a high-pitched voice. deep, and severe acne.
- Presence of pubic hair at a relatively early age.
- Rapid growth in childhood, but final height is generally shorter than average.
Reason
In 95 percent of cases of congenital adrenal hyperplasia, there is a deficiency of the enzyme 21-hydroxylase. However, there are also several other enzymes that can be deficient, although they are much less common.
Congenital adrenal hyperplasia is inherited genetically from parents who have the disease or are carriers of the disease.
Diagnosis
The diagnosis of congenital adrenal hyperplasia can be made by a detailed medical interview, direct physical examination, and certain investigations. Prenatal testing can be done if there are family members who have this condition or both parents are known to be carriers of the gene for congenital adrenal hyperplasia.
Prenatal checks that can be done are:
- Amniocentesis. This procedure uses a needle to take a sample of amniotic fluid from the uterus and further examine the cells present in the fluid.
- Chorionic villus sampling. This examination involves taking cells from the placenta for further examination.
After birth, the diagnosis of congenital adrenal hyperplasia can be made by:
- Medical interview and physical examination. The doctor can evaluate the signs and symptoms that are experienced, and if congenital adrenal hyperplasia is suspected based on the findings, investigations can be carried out to confirm the diagnosis.
- Blood and urine tests. Tests to diagnose congenital adrenal hyperplasia evaluate the levels of hormones produced by the adrenal glands. Diagnosis can be established if there are abnormal levels of these hormones.
- Genetic examination. In older children and young adults, genetic testing may be needed to diagnose congenital adrenal hyperplasia.
- Examination to identify the sex of the child. In baby girls with ambiguous genitalia where the vaginal genitalia can resemble a penis, chromosomal analysis can be performed to identify genetic gender. In addition, ultrasonography (USG) can also be done to evaluate the presence of female reproductive structures such as the uterus and ovaries.
Treatment
Treatment of congenital adrenal hyperplasia depends on the type and severity of symptoms experienced. The goal of treatment is to reduce excessive androgen production and replace hormone deficiency.
Individuals with nonclassic congenital adrenal hyperplasia with very mild symptoms may not need treatment. Or it could only require low doses of corticosteroid class drugs, according to clinical indications and recommendations from a doctor.
If it is assessed that it requires treatment, the doctor can prescribe hormone replacement therapy which is consumed every day to replace hormone levels that have decreased.
Treatment that a doctor may prescribe may include:
- Corticosteroids to replace low cortisol levels
- Mineralocorticoids to replace aldosterone hormone levels to maintain water retention and remove excess potassium
- Salt supplements to help with salt retention
Monitoring the effectiveness of treatment can be done by physical examination, monitoring for side effects, and blood tests to check hormone levels.
Prevention
To prevent congenital adrenal hyperplasia from occurring, it may be recommended to carry out genetic counseling before pregnancy to see if both partners are sufferers or carriers of the gene for congenital adrenal hyperplasia.