Congenital adrenal hyperplasia is an inherited disorder of the adrenal gland and both sexes can be affected, but its impact on fertility is greater for women, and about 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia. The critical issue for these people is the lack of an enzyme the adrenal gland needs to make the hormones cortisol and aldosterone, and without these hormones the body produces more androgens (male sex hormones) that cause male characteristics to appear early (or inappropriately) in life.
Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes) but they may also experience:
- Abnormal menstrual periods and/or a failure to menstruate
- A deep voice
- The early appearance of pubic and armpit hair. This may later lead to excessive hair growth more generally
- Genitals that look both male and female (ambiguous genitalia), that often appear to be more male than female
Boys won’t have any obvious problems at birth, however they may appear to enter puberty as early as 2-3 years of age and changes may include:
- A deep voice
- The early appearance of pubic and armpit hair and the early development of male characteristics
- An enlarged penis and small testes
- Well-developed muscles
Both boys and girls will be tall as children but will be much shorter than normal as adults.
- Blood tests showing high levels of 17-OH progesterone and DHEA sulphate and low levels of aldosterone and cortisol which indicates congenital adrenal hyperplasia and this is usually accompanied by abnormal salt levels
- Other indicators are urine tests that show abnormal salt levels, along with high levels of urinary 17-ketosteroids and low or normal levels of 17-hydroxycorticosteroids
- X-rays will reveal bones that appear older than normal for that person’s age
The goal of treatment is to return hormone levels to normal, which is done by taking a form of cortisol (dexamethasone, fludrocortisone, or hydrocortisone) every day and additional doses of medicine are often required during times of stress, around severe illness or surgery.