(BPT) – Maintaining balance is an important part of life, especially when it comes to health and wellness. For people with classic congenital adrenal hyperplasia, commonly referred to as CAH, balance can be an ongoing challenge.

CAH refers to a group of genetic conditions that affect the body’s ability to maintain homeostasis – or balance – especially in response to stress. Specifically, the body’s adrenal glands lack a key enzyme needed to produce certain important hormones, which then results in:

  • Deficiency of cortisol, which regulates the body’s response to illness or stress
  • Deficiency of mineralocorticoids, such as aldosterone, which regulate electrolyte levels (sodium and potassium) and blood pressure
  • Overproduction of androgens (male hormones), such as androstenedione and testosterone

CAH can affect children and adults. Classic CAH, a more severe, rare and life-threatening form of the disorder, affects approximately 30,000 people in the U.S. and 50,000 people in Europe.

Diagnosis and symptoms of classic CAH

In the U.S. and many other countries, newborns are screened for classic CAH at birth. Classic CAH can cause a number of complex symptoms for children and adults, making it a challenge to manage daily. Symptoms can include:

  • Salt-wasting, meaning the body cannot retain sodium
  • Abnormalities in growth, such as accelerated growth in childhood or early closure of growth plates, leading to short stature
  • Early onset puberty
  • Excess hair growth and acne in adolescent girls and women
  • Irregular periods in adolescent girls and women
  • Testicular tumors (benign) in males (usually after puberty)

Challenges of treating classic CAH

After hearing the diagnosis, the parents of children with classic CAH often find themselves in a challenging position of fact finding, identifying adequate medical expertise and learning to manage their child’s condition.

“The first couple of years are hard – but after some time, you start to feel more comfortable,” said Alexandra Dubois, whose 13-year-old son lives with classic CAH. “I always tell other parents who receive a classic CAH diagnosis for their child that it’s going to be okay. When it’s your child, and it’s so personal, it’s amazing what you’re capable of.”

Unfortunately, treatment options for classic CAH are limited. While glucocorticoid medication is life-saving for these patients, the typical doses prescribed to children with classic CAH can suppress growth and cause a number of other problems, such as weight gain, especially if the dose is too high.

“When a child is first diagnosed with classic CAH, parents are worried about giving daily medications,” said Oksana Lekarev, D.O., Associate Medical Director of the Comprehensive Care Center for Congenital Adrenal Hyperplasia at Weill Cornell Medicine. “Yet, therapy is life-saving and helps patients achieve a balance of adrenal hormones. Therefore, we stress the importance of daily treatment, and we help parents along the way.”

While the current standard of care with glucocorticoid therapy can improve symptoms for many, it does not address the underlying disease and requires ongoing effort to balance the negative effects of the medication, including high androgen levels. Finding this balance between reducing disease symptoms and minimizing medication side effects can be a challenge and requires ongoing dedication from caregivers, patients and healthcare providers alike.

Classic CAH research and clinical trials

Clinical trials are important for advancing treatment options for people living with classic CAH. Participation in these trials helps to improve the medical and scientific communities’ understanding of the disorder and informs future research and development efforts.

“Most of the families that we work with who have a child with classic CAH understand that more research needs to be done and that patients who enroll in clinical trials help us better understand investigational treatments,” said Dr. Lekarev.

“I feel fortunate that we have this community around us. So many healthcare professionals are looking at this and finding even better solutions to treat classic CAH. There’s so much to be optimistic about going into the future,” said Dubois.

If your child is living with classic CAH, talk to their doctor to see if participating in a clinical trial is an option. The CAHtalyst Pediatric Study, which is evaluating an investigational drug called crinecerfont, is currently enrolling children and adolescents with classic CAH ages 2-17 years old. To learn more, visit CAHtalystPediatricStudy.com.