- The cortex produces cortisol, aldosterone, and androgens.
- The medulla produces dopamine, adrenaline, and noradrenaline.
- Classic CAH
- Salt Wasting
- Simple Virilizing
- Non-classic CAH
- Irregular or absent menstrual periods,
- Severe acne,
- Masculine features like facial hair, excessive body hair, deepened voice, etc.
- Early development of pubic hair,
- Rapid growth during childhood,
- Shorter final height.
- Low blood sugar levels,
- Low sodium level,
- Low potassium level,
- Replacement Hormone Medication; steroids like hydrocortisone, prednisone, dexamethasone, etc, and hormone-based chemotherapy.
- Reconstructive Surgery; for genital reconstruction and is an option for girls.
Symptoms of CAH
Among the signs that show as a result of the type of CAH a child has, other symptoms may include:
- Excessive urination of sodium.
- Early, delayed, or absent puberty.
Causes of CAH
The most common cause of congenital adrenal hyperplasia is a 21-hydroxylase deficiency.
Factors that increase the risk of having CAH include:
- Autosomal Excessive Inheritance Pattern; is the combination of 21-hydroxylase deficiency with other rare enzyme deficiencies that can cause CAH.
Children who have this condition have two parents who are CAH patients or are both carriers of the genetic mutation that creates the condition.
- Certain ethnic heritages like Hispanic, Italian, Ashkenazi Jews, Yugoslav, etc.
What are the treatment options for CAH?
Treatment is with steroids that replace the low hormones. Infants and children take a form of cortisol called “hydrocortisone”, while adults can take hydrocortisone, prednisone, or dexamethasone. These all replace cortisol.
Can CAH be cured?
Congenital adrenal hyperplasia is a genetic problem which results in the leak of one of the enzymes needed to synthesize these hormones. Although there is no cure, with proper treatment, most people with CAH can lead normal lives.
How is congenital adrenal hyperplasia inherited?
All forms of CAH are inherited. Either one or both parents may have CAH or may be carriers of the genetic mutation that cause the condition and pass it down to their children through the genetic strand.
Can people with CAH drink alcohol?
Moderate drinking of alcohol does not affect CAH or it's treatment. However, much alcohol intake can affect the breakdown of steroids in the liver rendering the treatment less effective. Low alcohol intake is advised for CAH patients.
Can you get pregnant with CAH?
Pregnancy Is possible for CAH patients while on routine maintenance therapy. About 80% of women with simple virilizing and 60% of women with salt-wasting forms are fertile.