Congenital Adrenal Hyperplasia is a hereditary disorder that occurs in both girls and boys and is characterised by the absence or insufficiency of enzymes (in particular 21-hydroxylase) to produce adrenal hormones. In most cases the production of cortisol is affected.

What are the two types of Congenital Adrenal Hyperplasia?

There are two types of CAH, classic and non-classic. Classic emerges in early childhood, is more rare and is the most serious form of the disease. Non-classic develops in late childhood and is milder.

What are the symptoms of Congenital Adrenal Hyperplasia?

Symptoms vary according to the child’s age, gender and the type of Congenital Adrenal Hyperplasia. Infants with CAH exhibit vomiting, irregular electrolyte levels, difficulty to gain weight, ambiguous external genitalia in female new-borns (not typically female in appearance) and enlarged penis in boys. Symptoms of CAH in older children include early puberty, rapid growth and menstrual disorders (in girls).

Non-classic CAH symptoms are usually more noticeable in young girls and include male characteristics, excessive body hair, deepening of the voice, menstrual disorders and infertility. Other symptoms such as early puberty, acne, obesity, low bone density, and high blood cholesterol levels appear in both sexes.

How is Congenital Adrenal Hyperplasia diagnosed?

The endocrinologist will evaluate the child’s symptoms and perform a clinical examination to assess the condition. In order to confirm the diagnosis, the following tests will be performed:

  • Blood and urine tests to measure cortisol, aldosterone and androgen levels
  • SYNACTHEN stimulation test.

How is Congenital Adrenal Hyperplasia treated?

Treatment depends on the form of the disorder. The administration of cortisol helps in the classic from of the disease. Systematic monitoring by an endocrinologist is necessary to adjust the doses according to stress levels and the age of the child. Non-classic CAH may not demand immediate hormone replacement therapy, although it may be required in puberty.

Infants with ambiguous genitalia are a separate category and a surgical solution may be indicated.