Which are the symptoms of Congenital Adrenal Hyperplasia (CAH)?

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which are responsible for producing hormones that regulate various bodily functions. CAH is caused by a deficiency in certain enzymes involved in the production of cortisol, a hormone that helps the body respond to stress, maintain blood pressure, and regulate metabolism.

Symptoms of CAH can vary depending on the specific enzyme deficiency and the severity of the condition. In the most common form of CAH, known as 21-hydroxylase deficiency, the symptoms may become apparent shortly after birth or during early childhood.

One of the primary symptoms of CAH is abnormal genital development in females. Due to the excess production of androgens (male sex hormones) in the adrenal glands, female infants with CAH may have ambiguous genitalia, meaning their external genitalia may not clearly resemble typical female or male anatomy. This can lead to difficulties in determining the sex of the child at birth.

In both males and females with CAH, there may be an overproduction of androgens, leading to various symptoms. These can include early onset of puberty, rapid growth and development during childhood, and an accelerated bone age. In some cases, individuals with CAH may experience excessive hair growth (hirsutism) and acne due to the increased androgen levels.

CAH can also affect the body's ability to regulate electrolyte balance, leading to salt-wasting. This occurs when the adrenal glands do not produce enough aldosterone, a hormone that helps maintain sodium and potassium levels in the body. Salt-wasting can result in dehydration, low blood pressure, electrolyte imbalances, and potentially life-threatening adrenal crises.

Other symptoms of CAH may include:

• Poor weight gain and growth in infants


• Delayed or absent puberty


• Irregular menstrual periods in females


• Fertility issues


• Low blood sugar (hypoglycemia)


• Excessive thirst and urination


• Fatigue and weakness


• Behavioral and psychological issues, such as mood swings and depression

It is important to note that the severity of CAH can vary, and some individuals may have milder symptoms or be asymptomatic. Newborn screening programs are in place in many countries to detect CAH early, allowing for prompt treatment and management to prevent complications.

If you suspect that you or your child may have CAH or are experiencing any of the symptoms mentioned, it is crucial to consult with a healthcare professional for proper diagnosis and appropriate management.