The Path to Pregnancy: Navigating Fertility With Congenital Adrenal Hyperplasia (CAH)

If you’re a woman with congenital adrenal hyperplasia (CAH), you may have been told that your condition can make having a baby more challenging. But with the right care, pregnancy is possible.

“Women with CAH can generally have healthy pregnancies and babies, although they may need more specialist intervention or closer monitoring due to some risks that are known to be associated with [the condition],” says Molly Moravek, MD, the director of the reproductive endocrinology and infertility division at Henry Ford Health in Detroit.

Men with CAH may also need special treatment to conceive a child. Here’s a closer look at how CAH can affect your fertility, the treatments that are available, and the effects that CAH can have on your pregnancy.

• Irregular periods and issues with egg production
• Polycystic ovaries
• Thinner uterine lining, which can make it harder for an embryo to attach to the wall of the uterus
• Genital abnormalities and past reconstructive surgeries

What’s more, many women with well-managed CAH are able to get pregnant on their own, without additional treatment measures, says Ginny Ryan, MD, the clinical medical director of the Center for Reproductive Health and Fertility at UW Medical Center Roosevelt in Seattle.

There are several treatment routes, including CAH-specific ones and general fertility therapies. Your doctor can help you decide on the right treatment for you.

Optimizing Steroid Treatment

“Optimizing [steroid] medications can help to bring back regular ovulation and periods, which can help with fertility,” says Dr. Ryan. For many women, that may mean increasing the dosage at certain times of your menstrual cycle and dialing back at others.

“In some cases, the actual steroid being prescribed may also need to change,” says Dr. Moravek.

Clomiphene Citrate (Clomid) or Letrozole to Stimulate Egg Release

“All fertility treatments that are offered to women without CAH are also options for women with CAH,” Moravek says.

Metformin for Insulin Resistance

IVF and Other Forms of Assisted Reproductive Technology

Future children are only at risk if the patient’s male partner or sperm donor also carries a gene mutation that can cause CAH, Moravek explains.

“In couples who both carry a CAH-causing mutation, embryos created by IVF can be screened to see if they will be affected by CAH with relatively high accuracy, or a diagnosis can be made by genetic testing of a pregnancy,” she says.

“Women who have had prior genital surgery should also have a conversation with their obstetrician about whether a vaginal or cesarean delivery is recommended,” Moravek says.

You’ll also likely need to make adjustments to your CAH treatment plan, upping your steroid dose as your pregnancy progresses and having a dosing plan that addresses the physical demands of labor and delivery.

• Low Testosterone Poorly managed CAH can cause the body to stop secreting hormones that signal the testicles to make testosterone, which in turn can lead to decreased sperm production. Optimized steroid treatment can often reverse this problem.

  [9]

• Testicular Adrenal Rest Tumors (TARTs) These benign testicular tumors can develop from chronic hormonal imbalances. TARTs can compress the tiny tubes inside a man’s testicles that are responsible for producing sperm, leading to lower sperm counts.

  [8]

  They’re more common in men whose CAH isn’t well-controlled, but optimizing steroid treatment can restore sperm counts over time

  [9]

• Congenital adrenal hyperplasia (CAH) can make conception more challenging, since it impacts hormone levels and can disrupt ovulation, menstrual cycles, and uterine conditions needed for pregnancy.
• Men with CAH may also encounter fertility complications, some of which can be resolved by optimizing steroid dosage.
• Many women with well-managed CAH can still conceive and have healthy pregnancies, though it may take longer and often requires closer medical monitoring.
• Treatment options to improve fertility include optimized steroid therapy, ovulation-inducing medications like clomiphene or letrozole, management of insulin resistance, or IVF.