Which are the symptoms of Congenital Adrenal Hyperplasia (CAH)?

Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that impair the adrenal glands' ability to produce essential hormones like cortisol and aldosterone. Symptoms range from life-threatening salt-wasting crises in newborns to early puberty or fertility challenges in adults, depending on the specific enzyme deficiency and severity of the condition.

What are the common symptoms of Congenital Adrenal Hyperplasia?

Because Congenital Adrenal Hyperplasia (CAH) disrupts hormone production, symptoms vary based on the specific form of the disorder. The most common form, 21-hydroxylase deficiency, often presents with a spectrum of indicators:

• Salt-wasting: Severe dehydration, low blood sodium, and high potassium levels in infants.


• Atypical Genitalia: In females with severe CAH, ambiguous genitalia may be present at birth.


• Rapid Growth: Children may experience accelerated linear growth followed by early cessation, leading to shorter adult stature.


• Hyperandrogenism: Signs such as severe acne, excessive body hair (hirsutism), or irregular menstrual cycles in females.


• Adrenal Crisis: Life-threatening episodes of vomiting, diarrhea, and shock caused by insufficient cortisol.

How do symptoms of Congenital Adrenal Hyperplasia vary?

The severity of Congenital Adrenal Hyperplasia (CAH) is categorized into "classic" and "non-classic" forms. Classic CAH is usually identified via newborn screening due to the risk of salt-wasting crises. In contrast, non-classic Congenital Adrenal Hyperplasia is often milder, frequently presenting during late childhood or adolescence with symptoms like premature pubic hair growth or fertility issues. Over 81 members of the DiseaseMaps.org community living with Congenital Adrenal Hyperplasia have noted that daily quality of life is most affected by the need for lifelong glucocorticoid replacement therapy and the management of hormonal fluctuations.

When should families seek immediate medical attention?

If a patient with Congenital Adrenal Hyperplasia (CAH) exhibits signs of an adrenal crisis—including persistent vomiting, extreme lethargy, profound weakness, or dizziness—emergency medical care is required immediately. These episodes are medical emergencies that necessitate intravenous fluids and stress-dose corticosteroids to restore hormonal balance.

Next steps

• Consult a pediatric endocrinologist for specialized management of Congenital Adrenal Hyperplasia (CAH).


• Ensure you carry a medical alert ID and a "stress dose" kit at all times.


• Join our community at DiseaseMaps.org to connect with 81 other patients sharing their experiences with Congenital Adrenal Hyperplasia.


• Discuss genetic counseling with your healthcare provider to understand inheritance patterns.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases (GARD) Information Center: Congenital Adrenal Hyperplasia.


• Orphanet: Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency.


• OMIM (Online Mendelian Inheritance in Man): Congenital Adrenal Hyperplasia.


• CARES Foundation (Congenital Adrenal Hyperplasia research and support).