Reproduction Issues for Women with CAH

There is a lot of speculation about the reasons for reduced fertility rates in women with CAH. Very early reports were pessimistic about the fertility rates in women with CAH and NCAH, but most specialists are beginning to agree that, with adequate, modern treatment, the fertility prospects for women with CAH are much better than outdated figures would indicate. Anecdotal evidence from CARES members also indicates higher levels of reproduction than past (and some current) literature would suggest.

Precise fertility rates are difficult to obtain for a number of reasons. Because we cannot accurately quantify the number of women attempting reproduction, we cannot quote precise ovulation and pregnancy rates. Additionally, especially in the US, many of the girls initially followed at pediatric centers are lost to follow-up once they “age out” of the pediatric care system. As adults these women are followed by internists, Gynecologists and Adult Endocrinologists, if at all. And, unless there is a “problem,” many of these women do not seek treatment from the centers conducting studies. Hopefully, evidence from natural history studies will provide more tangible data about fertility rates.

Several researchers and clinicians have hypothesized and written about the barriers to fertility for women with CAH. These barriers include: poor adrenal suppression, a high prevalence of polycystic ovaries, implantation failure, unsatisfactory intercourse due to an inadequate vaginal introitus, and the combination of these biological factors with additional psychological factors culminating in decreased heterosexual activity.

High levels of androgen from the adrenal gland, or “poor adrenal suppression,” causes irregular periods and problems with egg production (ovulation). Additionally, it is thought that high levels of androgen in childhood might lead to the development of polycystic ovaries (ovaries that are physically larger but have smaller, dysfunctional follicles). Polycystic ovaries are also associated with irregular periods and ovulation problems. In many women with CAH, irregular periods and ovulation problems can be helped with more aggressive (or more compliant) steroid treatment. However, finding a balance between over treatment and “normal fertility” is sometimes challenging.

In cases where ovulation is not a problem, implantation may be the barrier to fertility. Many women with CAH experience elevated progesterone levels during the follicular phase of the menstrual cycle. Sometimes this results in an endometrium (uterine lining) that is too thin for implantation. Even though fertilization can occur, the uterus isn’t ready to accept or hold the fertilized egg.

There are many therapies available to women with CAH who are experiencing problems with fertility, such as different (or increased) glucocorticoid therapy, clomiphene citrate for ovulation, and metformin for insulin resistance and androgen excess, to name a few. Women with CAH interested in pregnancy would be best served seeing a Reproductive Endocrinologist experienced with disorders of androgen excess. For help finding a board certified Endocrinologist, please call the CARES Foundation office toll free at 866 -227-3737.