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An error in a single gene can cause congenital adrenal hyperplasia. This is hereditary and is passed down to children from their parents. It is a common form of autosomal recessive genetic disorder.

Symptoms

• Since large amounts of androgen, a hormone known to stimulate male sex organs, is produced, there might be defects in sexual development. There might be masculinization in the genitals of females.
• Some patients might be deficient in glucocorticoids, which can cause symptoms of Addison’s disease and symptoms like vomiting, nausea, weakness, depression, irritability, anorexia, hypotension, darkening of the skin, and low resistance to cold.
• The disease also has another form called congenital lipoid hyperplasia, which means that there is a false presence of testicular and ovarian tissue. The prominent feature is known as male pseudohermaphroditism. You can know that it is this disorder when the external male genitals cannot masculinize as well as by hypospadias. Not many infants suffering from this disorder can survive.
• Female pseudohermaphroditism is another from of CAH. Female infants are born with abnormal external genitalia, which gives the impression that they have a phallus and their labia is fused. While the female reproductive organs are present internally, there is a fusion of the labial fold that can seal off the vagina. If untreated, they remain infertile and would not be able to menstruate. They may even have psychological problems. Quite often, when they are small, they are raised as boys, till the condition becomes apparent.

Other Symptoms:

• Too much of facial hair
• Irregular periods

Acne

• Early onset of puberty
• Lesser height than the parents
• Difficulty in retaining enough salt in the bodies
• Low blood sugar

Low blood pressure

• Dehydration

Diagnosis

A physical examination and a clinical examination can confirm Congenital Adrenal Hyperplasia.

Treatment

While this is not curable, it can be treated with medications. The medicines can help to replace the hormones that the body of the patient is unable to produce. Some patients need medicines everyday, while others need only when they are unwell.

The main step of the treatment is that glucocorticoid is administered to suppress ACTH. This is also known to reverse the metabolic abnormalities. There might be the need to perform plastic surgery on females who have mixed-up genitalia. We suggest you speak with your doctor for detailed information about the problem and the treatment plan.