What is Congenital Adrenal Hyperplasia (CAH): Symptoms, Treatment and Causes

Max Lab

Feb 07, 2024

Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that can affect the adrenal glands. Located on top of the kidneys, the adrenal glands produce several important hormones that are needed by the body to function properly.

What Is Congenital Adrenal Hyperplasia (CAH)?

The hormones produced by the adrenal glands include:

• Cortisol: In charge of regulating the body’s response to illnesses or stress, maintaining the blood pressure, blood sugar levels, and energy levels.
• Aldosterone: Helps maintain sodium and water levels in the body, along with controlling blood pressure and blood volume.
• Androgen: Male sex hormones, including testosterone, these hormones play a crucial role in growth and development and also bring about the onset of puberty.

In congenital adrenal hyperplasia, the body lacks an enzyme that is needed by the adrenal glands to produce the hormones.

Types of Congenital Adrenal Hyperplasia

The disorder can be found in infants as well as in adults. Congenital adrenal hyperplasia has two types, which are:

Classic Congenital Adrenal Hyperplasia

Typically detected at the time of birth or during an infant’s early years, classic CAH is the rarer but more severe form of congenital adrenal hyperplasia. If not diagnosed and treated early, the disorder can even be fatal, leading to complications like shock or coma. Classic CAH is further categorised into two sub-types: -

• Salt-Wasting CAH: Under this condition, the adrenal glands produce very little aldosterone, without which the body is unable to regulate the salt levels, leading to too much sodium being lost through urine. Under this type of CAH, the body also produces reduced amounts of cortisol and excessive amounts of androgen.
• Simple-Virilising CAH: Also known as non-salting wasting congenital adrenal hyperplasia,  this is a milder form of CAH, where the deficiency of the aldosterone hormone is less severe. However, the imbalance of the small amounts of aldosterone and cortisol and excessive levels of androgens may lead to issues with sexual development.

Non-Classic Congenital Adrenal Hyperplasia

Non-classic CAH is the milder form of congenital adrenal hyperplasia and generally means that there is excessive production of androgens in the body. This form of CAH generally develops later, during childhood, puberty, or even early adulthood. Many times, it may not even display any symptoms but may impact one’s sexual development. Non-classic CAH may be diagnosed through blood and urine tests, physical examination, and genetic testing.

Causes of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is known to be an autosomal recessive disorder, which means that it may be inherited by a child when both parents have autosomal recessive gene traits.

Genetic mutations like these can impact the supply of part particular enzymes called 21-hydroxylase and 11-hydroxylase. The absence of either one of these enzymes is one of the leading causes of congenital adrenal hyperplasia.

Low levels or a complete lack of these enzymes results in decreased cortisol levels as well. To make up for the shortage of cortisol, the adrenal glands start producing more androgens, or male hormones.

Symptoms of Congenital Adrenal Hyperplasia

The symptoms of congenital adrenal hyperplasia may vary, depending on the type of CAH. The symptoms also vary based on which gene is defective and the level of enzyme deficiency one has.

Symptoms of Classic Congenital Adrenal Hyperplasia

Classic CAH results in a higher production of androgens in one’s body, the symptoms of which appear at birth or in early infancy. Further, the symptoms of congenital adrenal hyperplasia in females are different from those in males. However, some common symptoms that one may notice include:

• Atypical genitalia in infants who are assigned female at birth. This means that the infant’s external sex organs may resemble a male’s genitalia, but their internal sex organs remain female.
• An enlarged penis in infants who are assigned male at birth.
• Development of male characteristics in females, such as a deep voice, excessive facial hair, and bulky muscles.
• Early signs of puberty, such as changes in the voice and early pubic, facial, and armpit hair.
• Benign testicular tumours.
• Rapid growth, including an advanced bone age.
• Irregular menstrual periods.
• Infertility.
• Shortened height.

Other symptoms that may be a result of the hormonal imbalances include:

• Unexplained weight loss
• Vomiting
• Low blood sugar
• Dehydration
• Low sodium levels
• Low blood pressure
• Irregular heartbeat
• Diarrhoea

Symptoms of Non-Classic Congenital Adrenal Hyperplasia

Non-classic CAH may start displaying symptoms at the onset of puberty or during early adulthood. For this type of congenital adrenal hyperplasia, the symptoms may include:

• Acne.
• Rapid growth, including advanced bone age.
• Early puberty.
• Excessive facial hair growth and deepening of the voice in females.
• Irregular periods.
• Male-pattern baldness.
• Infertility.
• Enlarged penis but small testicles in males.

Treatment for Congenital Adrenal Hyperplasia

The treatment for congenital adrenal hyperplasia may vary depending on its type and the severity of the condition. Most treatment plans for CAH aim to reduce the excessive amounts of androgens in the body while also including supplements to make up for the deficient hormones.

However, the treatment for congenital adrenal hyperplasia in adults and children is similar. A healthcare provider may suggest hormone replacement therapy or steroids after a thorough examination of the symptoms through a number of diagnostic tests and a physical examination. Apart from oral medication and supplements, surgery can also be considered by females with CAH for functional or cosmetic purposes.

It is important to remember that while congenital adrenal hyperplasia poses its own set of challenges, early detection and proper treatment at the right time can make a world of difference, with most individuals leading healthy lives afterwards.