Best Practices for CAH Care, with Richard Auchus, M.D., Ph.D.

In an interview with The Educated Patient, Richard Auchus, M.D., Ph.D., professor at University of Michigan Health, discusses current and emerging treatment options for congenital adrenal hyperplasia (CAH), emphasizing the challenges of managing hydrocortisone dosing and the importance of optimizing care.

He highlights modified-release hydrocortisone available in Europe and potential new delivery methods, including insulin pump-based administration. Additionally, he reviews alternative treatment approaches beyond glucocorticoids, such as the prostate cancer drug abiraterone acetate and the recently U.S. Food and Drug Administration (FDA)-approved corticotropin-releasing factor (CRF) antagonist, crinecerfont.

Auchus explains that crinecerfont has shown promising results in clinical trials, reducing excess adrenal androgen production and enabling lower glucocorticoid doses while maintaining disease control by blocking the signal coming from the hypothalamus to the pituitary to send more adrenocorticotropic hormone (ACTH) to the adrenal glands. However, glucocorticoid therapy remains essential, and he underscores the delicate balance needed to prevent both under- and overtreatment. Laboratory monitoring, including androgen precursor levels and bone age in children, is crucial for adjusting therapy.

For pediatric patients, parents play a crucial role in ensuring proper medication dosing, advocating for school accommodations and tracking growth milestones. Many families face challenges in dosing accuracy due to the limited tablet formulations available in the U.S., often requiring compounding or tablet crushing. Parents should work closely with experienced pediatric endocrinologists to optimize care.

For adults, monitoring long-term effects of glucocorticoids, including bone health, metabolic complications and fertility issues, is critical. Patients should proactively discuss treatment adjustments, alternative therapies and necessary screenings with their healthcare providers. Auchus stresses the importance of adherence to medication and carrying emergency injectable hydrocortisone to prevent life-threatening adrenal crises.

Ultimately, Auchus advocates for a patient-centered approach, urging both parents and individuals with CAH to seek expert care, ask informed questions, and aim for treatment that supports normal growth, development and overall quality of life.

“Everybody misses a pill now and then, but you need to be invested in your care because the outcomes are going to be your own health and your own morbidities later on in life,” he concludes.