Estimated reading time: 8 minutes
Medically reviewed and verified by Kate Burke, MD, MHA
Living with congenital adrenal hyperplasia (CAH) means a lifetime of balancing your hormones. As a child, this condition can have a significant effect on different parts of the body, including the bones. If you or someone you know has CAH, it is important to understand how it can affect bone health from childhood to adulthood. That means understanding how bones develop and how CAH impacts them at different stages of life. If this seems complex, don't worry! PatientsLikeMe is here to help.
CAH and Bone Health
CAH is a genetic disorder that causes a deficiency in the hormone cortisol. Because of this, the body struggles to manage stress and maintain blood sugar levels. Because the body can’t make enough cortisol, the adrenal glands start producing excess androgens (male sex hormones), even in females. This hormonal imbalance1 affects many systems in the body, including bone growth and health. However, the main reason CAH affects bones is because of the treatment required to manage the condition. People with CAH are often prescribed glucocorticoids, a type of steroid, to replace the missing cortisol. While these medications are life-saving, they do have side effects, especially when used over a long period. One of these side effects is an impact on bone strength and density. The overproduction of androgens in people with CAH can also affect bone development.
Bone Health in Children with CAH
During childhood, bones are rapidly growing and developing. This is the stage where bone mass is built, which will support a person throughout their lifetime. Compared to adults, children have more elastic tissue, called cartilage2, in their joints. This lets the bones develop and grow over time, and in fact turns into bone mass as they age. However, children with CAH face some unique challenges with bone health due to their condition and its treatment.
- Glucocorticoid Therapy: Children with CAH are usually given glucocorticoid medications from a very young age. These medications help manage their hormone levels, but they can also slow down bone growth. This can lead to weaker bones or a condition called low bone mineral density3 (BMD). BMD refers to how dense or strong the bones are. In some cases, children with CAH might have normal bone density, but in others, they might have less bone strength because of long-term medication use.
- Excess Androgen Exposure: The overproduction of androgens in children with CAH can cause bones to grow too quickly and then stop growing too soon. There is a period in everyone's life called adrenarche4, which is when your body starts naturally producing androgens. For children with CAH, it can start earlier on in their lives. This might mean they end up shorter as adults because the bones fuse (stop growing) earlier than they are supposed to. People with CAH can take high doses of glucocorticoids to control excess androgen production, weakening bone health.
Some children with CAH may experience early development of puberty signs (like pubic hair), which can also affect bone growth. Additionally, the risk of bone fractures may increase if bone density is low.
Bone Health in Adolescents with CAH
Adolescence is a crucial time for bone development. During puberty, the body builds a lot of bone mass, which is important for long-term bone health. In fact, about half5 of your bone mass is added during adolescence. For those with CAH, several factors come into play.
- Bone Mineral Density (BMD): BMD is a measure of how many minerals, primarily calcium and phosphorus, there are in a specific volume of bone. It can be a good indicator of future issues like osteoporosis or fractures. Studies show that many adolescents with CAH have a normal BMD6, but some may have lower bone density due to their glucocorticoid treatment. Adolescents who have been on high doses of steroids for a long time might see a decrease in bone strength.
- Lean Body Mass (LBM): LBM refers to muscle mass, and it plays a big role7 in bone health. The stronger the muscles, the stronger the bones tend to be. In adolescents with CAH, maintaining good muscle mass is important because it can help protect bones and improve bone density. Research shows that lean body mass is an important factor in keeping bones strong in people with CAH.
Adolescents with CAH may have delayed or early bone age, meaning their bones may not be growing at the same rate as others at the same age. Some might experience more fractures, particularly in weight-bearing areas like the hips and legs.
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.
Bone Health in Adults with CAH
As people with CAH grow into adulthood, their bone health is still influenced by the treatment they've had throughout their lives. By adulthood, bone growth has typically stopped. Maintaining bone strength is an important part of preventing future problems like osteoporosis, a condition where bones become weak and brittle.
- Long-Term Glucocorticoid Use: Adults who have been treated with glucocorticoids for CAH throughout their life might have a higher risk of developing osteoporosis. This is because long-term use of glucocorticoids can worsen bone formation and increase the rate at which bone is broken down. Steroids lower the density of minerals in the bone, which makes them more fragile. People with CAH may have up to 1.5 times8 as many bone fractures as those without the condition.
- Bone Density in Adulthood: Some studies show that adults with CAH may have lower bone mineral density compared to people without the condition. This lower bone density can make them more susceptible to fractures as they age. In fact, up to 40%9 of patients on long-term glucocorticoids develop bone loss that leads to fractures. However, not everyone with CAH will experience this, and some people may have normal bone strength.
Adults with CAH may be at an increased risk of osteoporosis or bone fractures, especially if they have been on high doses of glucocorticoids for a long time. Monitoring bone health through regular bone density scans can help catch any problems early.
Common Conditions
People with CAH may experience specific bone-related issues as a result of their condition and treatment.
- Osteopenia: This is a condition where bone mineral density is lower than normal but not low enough to be classified as osteoporosis. People with osteopenia are at higher risk of developing osteoporosis later in life.
- Osteoporosis: This is a more serious condition where bones become weak and brittle, increasing the likelihood of fractures. People with osteoporosis need to take steps to protect their bones, such as taking calcium and vitamin D supplements, exercising regularly, and avoiding smoking or excessive alcohol use.
- Fractures: Weakened bones can lead to an increased risk of fractures, especially in weight-bearing bones like the hips, spine, and wrists. Even minor falls or injuries can cause a fracture if bone density is low.
How to Improve Bone Health
If you or someone you know has CAH, there are steps you can take to support healthy bones. Weight-bearing exercises like walking, running, or resistance training help build and maintain bone density. Strong muscles can also help protect bones. Eating a balanced diet10 that includes plenty of calcium-rich foods (like dairy products, leafy greens, and fortified foods) and vitamin D (which helps the body absorb calcium) is important for bone health. Regular bone density scans can help monitor bone health and catch any issues early. Your doctor can recommend how often you should have these scans. If you are taking glucocorticoids to manage CAH, talk to your doctor about the lowest effective dose to minimize side effects. Your doctor may also prescribe medications to help protect your bones.
While congenital adrenal hyperplasia (CAH) can affect bone health throughout life, there are ways to manage and protect bones at every stage. Whether you're a child, an adolescent, or an adult with CAH, staying proactive about bone health is important to prevent issues like osteoporosis and fractures. Regular exercise, a healthy diet, and ongoing medical care can help you maintain strong, healthy bones and lead a full, active life.
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- https://www.endocrine.org/-/media/endocrine/files/patient-engagement/hormones-and-series/hormones_and_your_bones_what_you_need_to_know.pdf#:~:text=Hormones%20are%20really%20important%20to,likely%20to%20fracture%20or%20break.
- https://www.niams.nih.gov/health-topics/kids-and-their-bones
- https://www.ncbi.nlm.nih.gov/books/NBK278968/
- https://pmc.ncbi.nlm.nih.gov/articles/PMC8764343/
- https://pubmed.ncbi.nlm.nih.gov/12014703/
- https://pmc.ncbi.nlm.nih.gov/articles/PMC3686497/#:~:text=The%20majority%20of%20studies%20have,data%20indicate%20skeletal%20deficits23.
- https://pubmed.ncbi.nlm.nih.gov/15454104/
- https://whatthecah.com/what-is-cah
- https://www.ncbi.nlm.nih.gov/books/NBK531462/
- https://www.bonehealthandosteoporosis.org/patients/treatment/nutrition/