Congenital Adrenal Hyperplasia in Adults: Early Signs You Shouldn’t Overlook

Do you experience chronic fatigue, unexplained weight gain, or fertility challenges that don’t seem to have a clear cause? Many adults unknowingly live with Congenital Adrenal Hyperplasia (CAH) — a genetic disorder that affects the adrenal glands and disrupts hormonal balance. While CAH is often diagnosed in infancy or childhood, milder forms can go undetected well into adulthood, causing persistent but vague symptoms that are easily misattributed to stress or other health issues

What is Congenital Adrenal Hyperplasia (CAH)?

CAH is a group of inherited disorders caused by enzyme deficiencies that affect how the adrenal glands produce cortisol, aldosterone, and androgens (male hormones). The most common form is 21-hydroxylase deficiency, which leads to an overproduction of androgens while limiting the production of cortisol and, in some cases, aldosterone.

In adults, this imbalance often results in subtle but impactful symptoms that gradually worsen over time. Unlike the "classic" form of CAH detected at birth, the non-classic form is milder and tends to present later in life.

Early Signs of CAH in Adults

1. Chronic Fatigue and Low Energy

Low cortisol levels often lead to persistent exhaustion, even after adequate rest. Many adults with undiagnosed CAH struggle with daily fatigue and find it difficult to cope with physical or emotional stress.

2. Irregular Menstrual Cycles

Women with CAH may experience irregular periods, amenorrhea (absence of menstruation), or polycystic ovary-like symptoms. This is largely due to elevated androgen levels interfering with normal ovarian function.

3. Excessive Body and Facial Hair (Hirsutism)

Increased androgen production can cause coarse, dark hair growth on the face, chest, abdomen, or back, especially in women. This is one of the more visible signs that often leads women to seek medical advice.

4. Severe Adult Acne and Oily Skin

High androgen levels may also trigger severe, cystic acne that is resistant to standard treatments, persisting well into adulthood.

5. Infertility and Hormonal Imbalances

Men and women with CAH often face fertility issues due to disrupted hormone production. In women, androgen excess can prevent ovulation, while in men, it may lead to reduced sperm production.

6. Unexplained Weight Gain or Difficulty Losing Weight

Many adults with CAH report sudden or gradual weight gain, particularly around the midsection, despite a healthy diet and exercise routine. Cortisol deficiency may slow metabolism and contribute to this symptom.

7. Low Libido and Sexual Health Issues

Hormonal imbalances in CAH can cause decreased libido, erectile dysfunction in men, or vaginal dryness in women, affecting overall sexual well-being.

8. Mood Changes and Depression

Because cortisol plays a role in mood regulation, adults with CAH may experience depression, irritability, or anxiety that is resistant to conventional treatments.

Why Early Diagnosis Matters

Without diagnosis and appropriate treatment, CAH can progress to more serious complications:

• Adrenal crises, where the body cannot produce enough cortisol during stress or illness, can become life-threatening.
• Long-term hormone imbalances can increase the risk of osteoporosis, metabolic syndrome, and heart disease.
• Infertility may become more difficult to address without early hormonal regulation.

How is CAH Diagnosed in Adults?

The first step is usually a hormonal panel to assess levels of cortisol, 17-hydroxyprogesterone, and androgens. If CAH is suspected, doctors may recommend genetic testing to confirm the diagnosis.

Additionally, adrenal imaging and ACTH (adrenocorticotropic hormone) stimulation tests might be used to evaluate adrenal function. Many adults are diagnosed after years of unexplained symptoms.

Treatment Options for Adults with CAH

• Glucocorticoid therapy (e.g., hydrocortisone, prednisone) helps replace deficient cortisol and reduce androgen production.
• Mineralocorticoids may be prescribed if aldosterone is also deficient to help regulate salt balance and blood pressure.
• Fertility treatments, such as ovulation induction, may be necessary for women trying to conceive.
• Lifestyle modifications including stress management, regular check-ups with an endocrinologist, and careful monitoring during illness or surgery to prevent adrenal crises.