Congenital Adrenal Hyperplasia (CAH): A Comprehensive Guide

Understanding CAH with Dr. Richard Auchus

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that affect cortisol synthesis, leading to a deficiency of cortisol and an excess of adrenal androgens.

Symptoms of CAH

Symptoms of CAH vary depending on the specific enzyme deficiency and the severity of the condition. However, common symptoms include:

• Ambiguous genitalia in female infants
• Early puberty in girls
• Acne and excessive body hair in girls and boys
• Growth retardation
• Hypertension

Causes of CAH

CAH is caused by mutations in one of several genes that are involved in the production of cortisol. These mutations lead to a deficiency of an enzyme that is necessary for the synthesis of cortisol, resulting in an excess of adrenal androgens.

Diagnosis of CAH

CAH is typically diagnosed through a combination of physical examination, laboratory tests, and genetic testing. A blood test can measure cortisol and adrenal hormone levels, while a genetic test can identify the specific mutation responsible for the condition.

Treatment of CAH

Treatment for CAH involves lifelong hormone replacement therapy to replace the cortisol deficiency and suppress the production of adrenal androgens. The specific type of hormone replacement therapy used will depend on the individual's age and the severity of the condition.

Importance of Adrenal Crisis

Individuals with CAH are at risk of an adrenal crisis, which is a life-threatening condition that can occur when the body is unable to produce enough cortisol during periods of stress. It is essential for individuals with CAH to carry an emergency kit containing injectable steroids and to seek medical attention immediately if they experience any symptoms of an adrenal crisis, such as vomiting, dehydration, low blood sugar, or confusion.

Conclusion

Congenital adrenal hyperplasia is a complex condition that requires lifelong management. With proper diagnosis and treatment, individuals with CAH can live healthy and fulfilling lives.