Congenital Adrenal Hyperplasia: Navigating a Rare, Lifelong Condition Often Diagnosed at Birth

June 11, 2024 at 15:57 PM EDT

(BPT) - This article was sponsored and developed by Neurocrine Biosciences, Inc.

Congenital adrenal hyperplasia (CAH) is a rare, lifelong genetic condition involving the adrenal glands that is estimated to affect up to approximately 30,000 people in the United States. June is CAH Awareness Month, which aims to recognize individuals and their families impacted by the condition.

People living with CAH have very little, if any, of a particular enzyme (21-hydroxylase) that the body needs to change cholesterol into two essential hormones (cortisol and aldosterone) that regulate important body processes. Without this enzyme, the building blocks for cortisol and aldosterone pile up and instead are used to make too many androgens. Androgens, which are also hormones, contribute to growth, puberty and reproduction.

Treatment options for CAH are limited and have not changed in over 70 years. Glucocorticoids (GCs) remain the only treatment for both low levels of cortisol and to help manage the overproduction of adrenal androgens. Mineralocorticoids are also used to treat aldosterone insufficiency. Long-term exposure to high adrenal androgen levels can cause shorter adult height, excessive hair growth and menstrual irregularity in females, infertility in females and males and may have a negative mental and emotional impact. GCs are effective at replacing the missing cortisol but higher doses are needed to reduce the production of adrenal androgens. However, high doses of GCs come with drawbacks, including serious short-term and long-term side effects, such as weight gain, osteoporosis and changes in mood and memory.

'As I've gotten older and had other health issues unrelated to CAH, steroids have often come up as a potential thing to be aware of, and I've gotten somewhat more concerned about the potential toll that steroids can take on the body,' Audrey, a person living with CAH, stated.

Neurocrine Biosciences, Inc. recently launched WHAT THE C@H?!, a new educational initiative that aims to close the gap in the need for helpful information about CAH and acknowledges the frustrations and challenges experienced by the community in managing the condition. The effort includes a dedicated website, WhatTheCAH.com, that offers educational information to help individuals living with CAH and their families navigate their journeys. It also offers the community a space to share their CAH stories with others. Through a form on the website, people can submit their WHAT THE C@H?! moment, a challenging experience of living with or managing the condition.

'I wish people understood that CAH is not something that anyone would choose to have and it's not something that there is currently a cure for. So, patients are forced to learn how to manage it the best they can. There really are not many resources available to help you through that process and you find resources the best you can. You hopefully find a care team that will support you in that. There are really big emotional costs that come with worrying about your health all of the time,' said Audrey.

To learn more about Audrey's experience growing up with CAH, visit: https://www.neurocrine.com/diseases-and-conditions/.

For more information about WHAT THE C@H?!, visit WhatTheCAH.com and follow the educational initiative on Facebook: What The CAH?!

This article was sponsored and developed by Neurocrine Biosciences, Inc.