Causes and risk factors
Adrenal glands are two small organs located on top of each kidney. They secrete the hormones cortisone and aldosterone. 21 hydroxylase is an enzyme required for production of these two hormones. Lack of this enzyme limits the production of hormones causing congenital adrenal hyperplasia. Also, there is rise in the level of androgen, a type of male sex hormone. This causes early appearance of male sexual features. It is a genetically inherited disorder.
Clinical presentation
Congenital adrenal hyperplasia are of two types – classic and non classic. Classic is a more severe form, and is usually detected in infancy or early childhood. Nonclassic is a milder form and it usually develops in late childhood or early adulthood. Features of Classic Congenital Adrenal Hyperplasia include ambiguous genitalia in girls [abnormal appearing genitals] like, enlarged clitoris; urethra and vagina may merge to form a larger hole. There is enlarged penis in boys. Children show symptoms like, vomiting, dehydration, poor weight gain. Sexual disorders such as very early puberty, irregular menstrual cycles in women. Features of Nonclassic Congenital Adrenal Hyperplasia are irregular or absent menstruation. Girls show masculine characteristics like, facial hair, excessive body hair and a deepening voice, severe acne. Associated signs and symptoms include low bone density, high blood cholesterol and obesity.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. Blood tests for serum electrolytes, aldosterone, renin, cortisol is recommended. X-ray of bones is done. Ultrasound scan of the pelvis is advised in the babies, who have ambiguous genitalia. Genetic testing helps to confirm the diagnosis.
Treatment
The treatment is focused on hormone replacement therapy which will bring the hormone levels to normal. Medicines such as corticosteroids are used to regulate the blood sugar levels and to control the salt concentration in the blood, and also stabilises cortisol levels. Patients with ambiguous genitalia need surgery to correct the abnormal appearance.
Facts and figures
CAH affects one in 15,000 births worldwide.
