Congenital Adrenal Hyperplasia (CAH) refers to the group of autosomal recessive diseases that result from mutations of genes for enzymes involved in the biochemical steps of production of cortisol from cholesterol by the adrenal glands in the process of steroidogenesis. Most of the conditions arising from CAH involve excessive or deficient production of sex steroids and can alter the development of primary or secondary sex characteristics in affected infants, children or adults. Only a small number of individuals with congenital adrenal hyperplasia have an intersex condition and almost 95 percent cases of this disorder are on account of 210hydroxylase deficiency.

Congenital Adrenal Hyperplasia is a group of disorders that is the outcome of the defective synthesis of adrenal corticosteroids. The insufficient production of glucocorticoids, particularly cortisol tends to cause a number of metabolic problems. Increased production of corticotrophin (ACTH) takes place in response to the decreased production of cortisol. Lack of aldosterone (steroid hormone) causes the sodium and water imbalance in the body. This can be fatal for some individuals.

Conditions caused by Congenital Adrenal Hyperplasia (CAH):

Ambiguous genitalia in some females causing difficulties in the determination of sex.

Vomiting and dehydration resulting from the sodium and water imbalance in the body.

Early presence of pubic hair and rapid growth in puberty.

Failure of puberty to occur.

Excessive facial hair, virilization or menstrual irregularity.

Hypertension, stress and depression.

Diagnosis:

Diagnosis is done by carrying out a clinical examination done by a clinician and confirmed through blood tests.

Treatment:

The primary step in the treatment of this disorder is the administration of enough glucocorticoid to control the ACTH and reverse the metabolic abnormalities. Plastic surgery may be essential for women with ambiguous genitals and must be performed early in life. Oral corticosteroid intake rectifies the endocrine deficiency and must be continued throughout life.