10 Things You Didn’t Know About Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that cause excess production of the hormones cortisol and aldosterone in response to stress.

Adrenal hyperplasia is clinically grouped into primary (classic) CAH (previously termed “congenital syndrome of excess of corticosteroid secretion”), with secondary CAH as another clinical subtype. People with CAH may have mild symptoms or may have more severe symptoms. Most people with CAHC have mild symptoms, and many have no symptoms at all.

There are likely other forms of CAH that have not yet been described. It is likely that researchers will discover more mutations in the future. Here are 10 things you didn’t know about congenital adrenal hyperplasia.

CAH affects 1 out of 4 000 births

Congenital adrenal hyperplasia (CAH) is a rare genetic condition that affects about 1 out of 4,000 newborn babies. CAH can be inherited from either parent. People with CAH may have mild symptoms or may have more severe symptoms. The mildest type of CAH may affect only a small number of children in a family. More severe types of CAH may affect an entire family.

What causes CAH?

CAH is caused by a disruption or mutation in one of several genes involved in the production of cortisol and aldosterone. This disruption or mutation results in too much cortisol and/or aldosterone being produced by the adrenal glands.

The most common forms of CAH are primary (classic) CAH and secondary CAH. Although they have different symptoms, they both result from the same abnormality. In primary (classic) CAH, the adrenal glands produce excessive amounts of cortisol and/or aldosterone. In secondary CAH, one of the adrenal glands produces excess cortisol, while the other produces excess aldosterone.

Symptoms of CAH

The most common medical signs of CAH are low blood pressure (hypotonia) and low levels of sodium in the blood (hyponatremia). Other signs of CAH may include:

Excess production of cortisol leads to:

• Excess fluid (edema) in the body’s tissues
• Excess bone growth (hypercalcemia) inside some bones
• Excess oil (sebum) production in the skin, can cause oily skin (ichtyosis)
• Excess sugar (glucose) production in the body’s cells
• Excess hair growth (hirsutism) on the body
• Excess carbohydrate (starch) in the urine
• Excess uric acid in the blood, can cause the gums to bleed easily (xanthomatosis)

Excess production of aldosterone leads to:

• Excess fluid (edema) in the body’s tissues
• Excess bone growth (hyperostosis) in some bones
• Excess oil ( sebum ) production in the skin, which can cause very dry skin (adynamic ichthyosis)
• Excess sugar (glucose) production in the body’s cells
• Excess uric acid in the blood, which can cause the gums to bleed easily (xanthomatosis)
• Excess calcium in the blood (hypercalcemia)

CAH has two subtypes

• There are two main types of CAH. Primary (classic) CAH affects both adrenal glands and is characterized by excess cortisol production and characteristic bluish discoloration of the skin (perneliosis) in the palms of the hands.
• Secondary (unixed) CAH occurs only in one of the adrenal glands, and it is characterized by excess cortisol production and characteristic red pigmentation (erythroderma) in the palms of the hands.

CAH is a genetic disorder

Some people with CAH might have had one unaffected parent, and some might not know who their parents or other ancestors were. However, having two unaffected parents increases the likelihood of having a child with CAH by a factor of about six. For each parent with CAH, there is a one-in-four chance (25%) of having a child with the condition.

CAH is a genetic disorder caused by a disruption or mutation in one of several genes involved in the production of cortisol and aldosterone. In fact, about 80% of cases of classic CAH are inherited. This means that if you have classic CAH, your child has a 25% chance of inheriting the condition and developing it.

CAH can have a massive impact on the quality of life

Children with CAH may have many medical and developmental complications, including:

• Breathing problems
• Developmental delays
• Difficulty seeing in dim light (visual impairment)
• Eye problems
• Heart defects
• Learning disabilities
• Neurological problems
• Seizures
• Small head size (microcephaly)
• Spina bifida
• Stomach problems
• Thyroid problems

These complications are often related to complications of low blood pressure, low blood sodium, and low levels of potassium in the blood.

You don’t know whether you have CAH until you are diagnosed

People with CAH often have no symptoms at all. Adults with CAH are more likely to have signs of low blood pressure and low sodium in their blood, but most adults do not have those signs.

If you have symptoms of low blood pressure, low sodium, or low levels of potassium in your blood, you should talk to your doctor. It is important to find out if you have CAH, because treatment can be given, and there is a cure for this condition.

Conclusion

Congenital adrenal hyperplasia is a genetic condition that is usually inherited. It causes overproduction of cortisol and aldosterone in the body, which can have a negative impact on many aspects of life. It is often detected at birth, but only treated with medications when it is detected.