Estimated reading time: 6 minutes
Medically reviewed and verified by Kate Burke, MD, MHA
Congenital adrenal hyperplasia (CAH) is a rare genetic condition that affects hormone production in the adrenal glands. Over time, this can cause a number of physical and emotional changes in the people living with this condition. One area parents should be aware of is how CAH can affect brain development and function during childhood. Understanding these impacts is an important part of supporting your child’s physical, emotional, and cognitive well-being. Here, PatientsLikeMe will look at how CAH influences brain chemistry, the challenges children with the condition may face, and steps parents can take to help their children thrive.
How Does CAH Affect the Brain?
CAH changes hormone levels in the body, including cortisol and androgens. Both of these hormones play a big role in how the brain develops! Cortisol influences memory, cognitive performance, brain structure and mood. In people with CAH, their body cannot produce cortisol naturally, leading to lower levels that have to be supplemented through hormone therapy. These low cortisol levels can affect energy regulation and your body's ability to respond to stress. Studies have found a link between low cortisol levels and poor memory.
CAH can also lead to high levels of androgens. This is the body's response to low cortisol levels, as it stimulates the adrenal glands to produce more androgens to compensate. These high levels of androgens in the blood can impact regions of the brain associated with behavior, emotion, and learning. Studies have found it can lead to neurodegeneration and higher levels of inflammation in the brain. Here are some symptoms of high androgen levels to watch for:
In women:
- Excess body hair
- Early puberty
- Irregular periods
- Acne and oily skin
In men:
- Enlarged penis
- Excess body hair
- Voice deepening
Even with treatment, getting the hormonal balance can be hard! It can sometimes lead to overexposure to glucocorticoids (medications used to replace cortisol). The changes in hormone levels can also impact a developing brain.
Physical Effects
Brain imaging studies have shown structural differences in children with CAH. There has been reduced brain volume in a few key areas, like the hippocampus which is linked to memory, and the amygdala which is linked to emotions. They also found changes in white matter. White matter is found in the deeper tissues of the brain and spinal cord. Made of up of nerve fibers called axons, white matter connects regions of the brain and helps with focus, learning, problem solving, and balance. There can also be abnormal growth in the language areas of the brain. This does not happen in all patients with CAH, but some can have poor language skills. Some children with CAH may have learning difficulties or struggle with specific skills like memory or verbal reasoning.
Emotional and Behavioral Effects
Hormonal imbalances in CAH can influence behavior and emotions. In males, studies have found that men with CAH display more negative self-thinking and emotionality. There are also higher rates of depression and anxiety disorders among children with the condition. Anxiety and mood changes are common. These can happen because of the changing hormone levels, as well as the stress that comes with living with a chronic condition. These changes are not universal, but they show how CAH can affect more than just physical health.
The hypothalamic-pituitary-adrenal axis? Low cortisol? High androgens? What does it all mean?
Watch now: The science behind CAH: What’s going on in my body?
Congenital adrenal hyperplasia (CAH) can be overwhelming, but breaking it down can make it easier to understand what's happening in your body. Hormones monitored by your doctor are produced by several different organs that make up the HPA axis. The HPA axis is short for hypothalamic-pituitary-adrenal axis and in people with CAH, those organs don’t work together as they should. Learn more about the HPA axis and its role in this video.
Questions about CAH and how it affects the body? Visit WhatTheCAH to learn more. Sponsored by Neurocrine Biosciences, Inc.
What Can Parents Do?
Thinking about how a condition affects your child's brain can be overwhelming! It is a complex part of the body, and having access to information on concrete steps you can take is a good place to start. Here is what you can do.
Get regular medical care
Frequent check-ups with an endocrinologist are the best first step. Managing hormone levels carefully reduces the risk of complications that can impact brain development. With regular checkups you can avoid issues like salt-wasting crises or hypoglycemia.
Monitor development
Watch for signs of learning challenges, like difficulty with memory, attention, or verbal skills. Early interventions, like speech therapy or tutoring, can make a big difference here.
Be there for emotional support
Children with CAH may feel different from other kids. Encourage them to talk openly about their feelings and be there to reassure them. If needed, get support from a mental health professional familiar with chronic conditions.
Create a structured environment
Consistency in routines, such as regular sleep and healthy meals, can help regulate energy and mood. These routines can support both brain and emotional health.
Promote physical activity
Exercise supports overall well-being and can reduce stress. Choose activities that your child enjoys and can do safely.
Problems to Watch For
Parents should stay alert for signs that their child may need extra support! There are a few things to keep an eye out for.
- Frequent frustration with schoolwork or noticeable drops in academic performance.
- Trouble expressing thoughts or understanding language.
- Emotional outbursts or sudden changes in mood.
- Difficulty making or maintaining friendships.
If you notice any of these signs, talk to your child’s doctor or school support team for guidance. Studies suggest that children with CAH benefit from early and consistent intervention. Addressing potential cognitive or emotional challenges early can help your child build the skills they need to succeed. In addition, being a part of CAH-specific support groups can provide families with practical advice and a sense of community.
Congenital adrenal hyperplasia affects not just the body but also the brain. By understanding these effects and providing tailored support, parents can help their children overcome challenges and lead fulfilling lives. Your role as a parent is vital—advocate for your child, work closely with their healthcare team, and remain patient as they navigate the unique journey of growing up with CAH.
Seize control of your health with PatientsLikeMe, a platform designed to support your wellness journey. Join a community of people who share their experiences and insights, helping you navigate your health challenges with confidence. Use PatientsLikeMe's tools to track your symptoms, treatments, and outcomes for the full picture of your wellness journey to make informed decisions and effectively communicate with your healthcare team. Evaluate the effectiveness of various treatments through comprehensive patient data, guiding you to the best choices for your health.