Does Congenital Adrenal Hyperplasia Cause Infertility?

If you or someone you love has congenital adrenal hyperplasia (CAH), it’s completely normal for one big question to pop up sooner or later:
“Will this make it harder for me to have kids?” It’s a serious topic, but we don’t have to talk about it in a scary way.

The short answer is: CAH can affect fertility, but it does not automatically cause infertility. Many people with CAH go on to become
parentssometimes with a bit of medical help, sometimes naturally. The details depend on your type of CAH, how well your hormones are controlled,
and whether there are complications that affect your reproductive system.

In this guide, we’ll unpack how CAH and fertility are connected in women and men, what the latest research shows, and what you can do to improve
your chances of having a family if that’s your goal.

What Is Congenital Adrenal Hyperplasia, Really?

Congenital adrenal hyperplasia is a group of inherited conditions affecting the adrenal glandstwo small hormone factories that sit on top of your kidneys.
In about 95% of cases, CAH is caused by a shortage of an enzyme called 21-hydroxylase, which your body needs to make cortisol and, in some
people, aldosterone. When that enzyme is missing or low, the body:

• Makes less cortisol (the “stress” and metabolic hormone).
• Sometimes makes less aldosterone (which helps control salt and blood pressure).
• “Shunts” hormone production toward androgens (testosterone-like hormones).

That extra androgen exposure is a big reason why CAH can affect genital development, puberty, periods, and fertility.

Classic vs. Nonclassic CAH

When we talk about fertility, it helps to separate CAH into two main forms:

• Classic CAH (the more severe form): Often shows up at birth or early in life. People may have salt-wasting crises, ambiguous genitalia
  in females, and need lifelong steroid replacement.
• Nonclassic CAH (milder form): May show up later with symptoms like irregular periods, excess hair growth, acne, or infertility.
  Some people are almost asymptomatic.

Fertility patterns look different in each group, but “impossible” is rarely the right word for either.

How Often Does CAH Affect Fertility?

Overall, studies show that fertility is reduced in people with CAH compared with the general population, especially in those with classic disease.
That said, “reduced” is not the same as “zero.”

Fertility in Women With CAH

Research following women with classic CAH finds that:

• Many have irregular or absent periods because of high levels of androgens and progesterone-like hormones.
• This can lead to anovulation (no egg released), which is a major cause of infertility.
• Some women also have anatomical differences because of prenatal androgen exposure and childhood genital surgeries, which can affect intercourse or delivery.
• Psychological factorslike body image, gender identity questions, pain with intercourse, or past medical traumacan also affect sexual activity and attempts to conceive.

Even with these challenges, modern care has changed the picture a lot. With good hormonal control and multidisciplinary support, some studies and expert
centers report that women with classic CAH can reach pregnancy rates approaching those of women without CAH, especially when they are actively
trying to conceive and followed by endocrine and fertility specialists.

Fertility in Men With CAH

Men with classic CAH also face fertility challenges, but for somewhat different reasons. The main culprits include:

• Testicular adrenal rest tumors (TARTs): These are benign lumps of adrenal-like tissue inside the testes. When exposed to high ACTH (the hormone
  that tells the adrenals to work harder), these adrenal rest cells can grow and compress the normal sperm-making tissue, lowering sperm counts.
• Hormone imbalances: Very high androgen levels and poor cortisol control can “short-circuit” the hypothalamic–pituitary–gonadal (HPG) axis, lowering
  the brain’s signals that stimulate normal testosterone and sperm production.
• Overtreatment with glucocorticoids: On the flip side, very high steroid doses used to suppress hormones can sometimes suppress the body’s own
  reproductive hormones as well.

Overall, men with classic CAH have lower fertility rates than the general male population, and a significant proportion have abnormal or low sperm counts.
Still, improved hormone control and early detection and treatment of TARTs are helping more men with CAH become biological fathers.

What About Nonclassic CAH and Fertility?

Nonclassic CAH, being milder, usually has a milder impact on fertility. Many people with nonclassic CAH:

• Ovulate regularly or close to regularly.
• Can conceive without fertility treatment.
• Might experience issues similar to polycystic ovary syndrome (PCOS)like irregular periods or trouble conceivingthat respond to hormone management.

However, nonclassic CAH can be underdiagnosed, so for some people, the first clue is actually infertility or recurrent miscarriage. Once diagnosed and
treated, many see improved cycle regularity and better chances of pregnancy.

Why Can CAH Affect Fertility?

Let’s zoom in on the “why.” CAH can affect fertility through several overlapping mechanisms:

1. Hormone Imbalances That Disrupt Ovulation and Sperm Production

In both women and men, excess adrenal androgens (and sometimes high progesterone levels) can confuse the brain’s hormonal feedback loops:

• In women, high androgens and progesterone-like steroids can disrupt ovarian follicle development and ovulation, similar to what happens in PCOS.
  Irregular periods, long cycles, or no periods are all signs of this.
• In men, chronic hormone imbalance can suppress the hypothalamus and pituitary, which are supposed to release signals (LH and FSH) that drive
  testosterone production and spermatogenesis.

So yes, CAH is technically an “adrenal” disorder, but its hormonal ripple effects absolutely impact the ovaries and testes.

2. Testicular Adrenal Rest Tumors in Men

TARTs are a classic fertility complication in male CAH. These tumors:

• Are usually benign (noncancerous).
• Grow in response to high ACTH stimulation when CAH is not well controlled.
• Can squeeze or replace seminiferous tubules, the tiny structures where sperm are made.

Over time, untreated TARTs can cause long-term damage and severely compromise sperm production. The good news? Early detection with regular testicular
ultrasound and optimized hormone therapy can sometimes shrink these tumors and improve sperm counts.

3. Genital Anatomy and Past Surgeries in Women

Girls with classic CAH may be born with virilized (more “masculine-appearing”) genitalia due to prenatal androgen exposure. Many undergo genital surgery
in childhood, which can:

• Change the anatomy of the vagina and perineum.
• Lead to scarring or narrowing.
• Sometimes cause pain with intercourse, which indirectly affects attempts to conceive.

Today, there is growing emphasis on shared decision-making, delaying some surgical decisions, and providing adult pelvic floor and sexual health support.

4. Psychosocial and Sexual Health Factors

CAH isn’t just about lab numbers. People with CAH often report:

• Body image concerns.
• Questions about gender and sexuality.
• Lower sexual satisfaction or desire in some cases.
• Anxiety or depression related to chronic illness and past medical experiences.

All of these can influence how often someone is sexually active, how comfortable they feel trying to conceive, and how long they persist with fertility efforts.
This is one reason why mental health support and sex therapy can be just as important as hormone levels.

Can People With CAH Have Children?

This is the heart of the question. The answer: Yes, many people with CAH can have biological children. But the path may be more winding than average.

For Women With CAH

With up-to-date treatment:

• Many women with classic CAH can achieve pregnancysome sources suggest pregnancy rates that are only modestly lower than the general population among women
  who actively try and receive specialized care.
• Women with nonclassic CAH often have near-normal fertility once their hormone levels are managed.
• If ovulation doesn’t resume with medical treatment alone, fertility medications (like ovulation inducers) or in vitro fertilization (IVF) can be used.

Pregnancy in CAH is considered high risk, but not “forbidden.” Care typically involves an endocrinologist, high-risk obstetrician, and often a
reproductive endocrinologist.

For Men With CAH

For men, the focus is often on:

• Detecting and treating TARTs early.
• Adjusting glucocorticoid therapy to better suppress ACTH and reduce tumor size.
• Monitoring testosterone and sperm parameters.

In some cases, intensifying steroid therapy (sometimes with bedtime dexamethasone) can shrink TARTs enough to restore sperm production. When sperm counts remain low,
procedures like testicular sperm extraction combined with assisted reproductive technologies can sometimes help men with CAH become biological fathers.

Genetic Counseling and Family Planning

Because CAH is an autosomal recessive condition, each child of two carriers has:

• A 25% chance of having CAH.
• A 50% chance of being a carrier.
• A 25% chance of neither having nor carrying the mutation.

Genetic counseling can help couples understand their risks, discuss options like carrier testing for partners, and explore reproductive choices such as IVF with
preimplantation genetic testing or prenatal diagnosis if desired.

How to Improve Fertility if You Have CAH

You can’t change the genes you were born with, but there is a lot you and your care team can do to improve your fertility outlook.

1. Aim for Good Hormonal Control

Staying as close as possible to your tailored treatment plan is key. That usually means:

• Taking glucocorticoid medications as prescribed.
• Using mineralocorticoids and salt supplements if you have salt-wasting CAH.
• Regular blood tests to monitor 17-hydroxyprogesterone, androgens, and other markers.

Both under-treatment (too much androgen) and over-treatment (too much steroid) can hurt fertility. Finding the “just right” zone often requires fine-tuning
with an endocrinologist who understands CAH.

2. Work With a Specialist Team

If fertility is on your mind, it’s worth seeing:

• An endocrinologist who regularly manages CAH.
• A reproductive endocrinologist or fertility specialist familiar with hormone-driven infertility.
• For men, a urologist or andrologist experienced with TARTs and male infertility.

CAH is rare, and not every clinician sees it often. A specialist can help you access the most current approaches to preserving and improving fertility.

3. Use Targeted Reproductive Treatments When Needed

Depending on your situation, your team may recommend:

• Ovulation induction medications if you’re not ovulating regularly.
• Intrauterine insemination (IUI) or IVF if sperm factors or other issues are present.
• Surgical treatment or careful monitoring of TARTs in men with CAH.
• Pelvic floor therapy or surgical revision if genital anatomy causes pain or difficulty with intercourse.

In very select, difficult cases, some centers have even considered bilateral adrenalectomy (surgical removal of the adrenal glands) as a last-resort option
to control hormones and improve fertility, but this is controversial and not routine.

4. Care for Your Mental and Sexual Health

Infertilitywhether actual or fearedcan be emotionally exhausting. If you’re dealing with CAH, you may also be processing:

• Years of medical visits and procedures.
• Body image concerns.
• Stress about passing CAH on to children.

Working with a therapist who understands chronic illness or with a sex therapist can reduce anxiety and improve communication with partners. Support groups,
including those organized by CAH advocacy foundations, can also make you feel less alone.

When Should You Talk to a Doctor About Fertility?

Consider bringing up fertility with your provider if:

• You’re thinking about having children in the future and want to plan ahead.
• You’ve been having regular unprotected intercourse for 6–12 months without conceiving.
• You have irregular or absent periods (for women) or concerns about erections, ejaculation, or testicular lumps (for men).
• You’re worried about the genetic risks of CAH for potential children.

A proactive conversation can lead to earlier testing, treatment adjustments, and a clearer roadmap for your family-building options.

The Bottom Line: Does CAH Automatically Mean Infertility?

No. Congenital adrenal hyperplasia does not automatically cause infertility. It does, however, increase the chances of fertility challenges in both women
and menespecially in classic forms of CAH and in people whose hormone levels have been difficult to control.

With modern treatment, careful hormone management, early monitoring for complications like testicular adrenal rest tumors, and access to fertility specialists,
many people with CAH go on to have biological children. Others choose paths like adoption, fostering, or remaining child-freeand all of these are valid,
thoughtful choices.

As always, this article is for general education only and is not a substitute for personal medical advice. If CAH and fertility are on your mind, the best next
step is to talk with your endocrinologist or a reproductive specialist who can tailor recommendations to your specific situation.

Real-Life Experiences: Living With CAH and Building a Family

Numbers and hormone charts are helpful, but they don’t fully capture what it feels like to navigate CAH and fertility in real life. The following are composite,
fictionalized scenarios inspired by common themes reported by people living with CAH. They’re not about any one person, but they reflect real-world experiences.

Emma’s Story: Classic CAH and a Long Road to Pregnancy

Emma grew up knowing she had classic CAH. She remembered early surgeries, frequent hospital visits, and a childhood where she knew more about steroid
replacement than most adults. When she hit her 20s, her periods were irregular, but she told herself she had plenty of time to think about kids “later.”

In her early 30s, Emma and her partner decided it was time. They tried the “relaxed” approach for a yearno tracking apps, no ovulation strips, just vibes.
Nothing happened. Her endocrinologist ordered new labs and an ultrasound; her androgen levels were higher than ideal, and ovulation looked spotty at best.

After tweaking her glucocorticoid regimen and adding a fertility specialist to the team, Emma started ovulation induction. It wasn’t instant magic: a few cycles
didn’t work, and there were frustrating days of side effects and negative tests. But about a year into this process, a faint second line finally showed up.

Pregnancy brought its own anxietiesextra monitoring, medication adjustments, and a high-risk OBbut Emma delivered a healthy baby by planned cesarean. For her,
the takeaway wasn’t that CAH made pregnancy impossible; it was that she needed a team who understood her condition and a lot more patience than she expected.

Jay’s Story: TARTs, CAH, and Rethinking “Male Factor” Infertility

Jay was diagnosed with classic CAH as a baby, but like many boys, the focus early on was keeping him alive and stablenot what his sperm count might look like
25 years later. In his late 20s, he and his wife tried to conceive and eventually underwent fertility testing when nothing happened.

His semen analysis came back with very low sperm counts. A testicular ultrasound revealed bilateral testicular adrenal rest tumors he’d never heard of. Jay felt
blindsidedno one had mentioned that CAH could cause tumors in his testes, let alone threaten his chance to become a father.

His endocrine team adjusted his steroid regimen to more aggressively suppress ACTH. Over several months, repeat ultrasounds showed that the TARTs had shrunk,
and his sperm count improved from “nearly zero” to “low but usable.” With the help of assisted reproductive techniques, Jay and his wife eventually had twins.

For Jay, knowledge was empowering. He later joined a CAH support group and became the unofficial spokesperson for “Guys, please get your testicular ultrasounds.”

Lena’s Story: Nonclassic CAH Hiding Behind “Just Irregular Periods”

Lena always had slightly chaotic menstrual cycles. Her doctors alternated between “probably stress” and “maybe PCOS.” She was busy, felt mostly fine, and did
what a lot of people do: she ignored it.

When she and her partner started trying for a baby, things didn’t go according to plan. After a year of attempts and a few chemical pregnancies, Lena ended up
with a reproductive endocrinologist who ordered a more complete hormone panel, including 17-hydroxyprogesterone. The result raised suspicion for nonclassic CAH,
which genetic testing later confirmed.

Starting low-dose glucocorticoids made a noticeable difference. Her cycles became more predictable, her ovulation tracking finally made sense, and her next
pregnancy progressed normally. Lena was surprised that a condition she had never heard of could be the missing piece of her fertility puzzle.

Her message to others: if someone keeps telling you “it’s just stress” or “some women are just irregular,” but your gut says something else, it’s worth asking
for a deeper evaluationespecially if you’re trying to conceive.

Choosing Your Own Path

Not everyone with CAH wants children, and not everyone who wants them will choose to pursue every available fertility treatment. Some people decide that the
physical, emotional, or financial toll is too high and choose adoption, fostering, or a happily child-free life. Others persist through years of labs,
procedures, and two-week waits because having a biological child matters deeply to them.

Wherever you land on that spectrum, CAH doesn’t take away your right to make thoughtful, informed choices about your body and your future. It just means you
may need more information, more specialized support, and occasionally more patience than someone without a rare adrenal condition.

The most important step is this one: you’re allowed to ask questions. About your hormones, your options, your risks, your chancesand how all of that fits into
the life you want to build.