Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a genetic condition that can affect both men and women. In women, adrenal hyperplasia creates a hormonal imbalance, which leads to an excess of male hormones in the body. This excess of male hormones can cause problems with ovulation and menstruation when a girl reaches puberty, and give rise to fertility problems when that girl becomes a woman and tries to get pregnant. According to experts, congenital adrenal hyperplasia may be overlooked by fertility doctors because the condition sometimes exhibits no external symptoms. In fact, some fertility doctors might think of testing for CAH only after other fertility treatment methods, such as clomid, have failed...
The Fertility Link
CAH affects the adrenal glands. These are important hormone-producing glands attached to the kidneys (on either side of the small of your back). Like so many things where the human body is concerned, a seemingly small organ like the adrenal glands can have a massive impact on the body's functioning. This is indeed the case with CAH. Women with adrenal hyperplasia may not have enough of a certain enzyme needed to produce essential hormones (called cortisol and aldesterone) in their adrenal glands. Apart from regulating heartbeat, blood pressure, salt levels and many other things in the body, cortisol and aldesterone also regulate (limit) the production of androgens. Androgens are male hormones - testosterone, for example, is an androgen. So, when a woman lacks cortisol and aldesterone, she may have a higher-than-usual level of male hormones in her body. This is where her future fertility problems may begin.
The elevated levels of male hormones can cause irregular menstrual cycles, making it difficult for a women to know when she is fertile. Excess androgens can cause periods to disappear for months at a time. They can even stop a girl ever beginning her periods. This is called anovulation. This failure to ovulate can last right into adulthood. Most girls in this situation would be likely to have their CAH diagnosed, because they would report their lack of menstruation in puberty to a doctor. Fertility problems arising from undiagnosed CAH would be more likely to occur in women who have simply accepted that they have unpredictable periods, or in women who have been misdiagnosed with another condition that affects their menstruation. PCOS (polycystic ovarian syndrome), for example, may be confused with CAH, as their symptoms are similar...
Other CAH Symptoms
In women, CAH symptoms other than menstrual irregularities and lack of ovulation, may include:
Excessive body hair
Shortness of height
Other masculine characteristics
In mild cases, CAH may produce no symptoms at all. In the most extreme cases, it may cause baby girls to be born with "ambiguous" genitalia - namely, genitals that have both male and female characteristics.
Diagnosis And Treatment
Blood tests can be carried out to diagnose CAH. Treatment will obviously depend on the severity of the symptoms. A baby girl unfortunate enough to be born with male features may require surgery in addition to drug treatment to allow her adrenal glands to function normally. In the case of a grown woman with CAH who is trying to get pregnant, treatment, depending on her personal medical situation, would usually involve medication to bring cortisol and aldesterone levels up, and androgen levels down.
Steroid drugs like hydrocortisone and dexamethasone mimic the effect of cortisol, while another steroid called fludrocortisone mimics the effect of aldesterone. Putting these hormones into the body artificially allows the body to reduce its male hormone levels. Ideally, this should help to resolve menstrual irregularities or anovulation. Experts say that results are usually seen within three months to two and a half years of beginning treatment. Other conventional fertility treatments may be used in combination with steroid treatment to help a woman with CAH get pregnant. A woman with CAH may have to take steroids for the rest of her life.