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For most parents, the health and happiness of their children is the top priority. Adjusting to the news that a child is ill or may have a chronic condition such as congenital adrenal hyperplasia (CAH) can be a scary, overwhelming process for many parents and guardians. Understanding your child’s condition is often the first step to better managing your child’s well-being.
CAH describes a group of conditions impacting the adrenal glands — organs that make and manage hormones such as cortisol, aldosterone and androgens. Each of these hormones plays a role in helping the body grow and stay healthy. Cortisol, often called the stress hormone, allows the body to have a good response to illness and stress. Aldosterone regulates sodium and potassium levels. Finally, androgens are sex hormones, such as testosterone, that help children grow and develop.
With CAH, these important hormones are thrown out of balance. The exact symptoms and severity depend on a number of factors such as the child’s age and sex and the amount of the different hormones produced. Children with CAH have variable mixture of making too little cortisol or aldosterone and having too many androgens.
To help get you started, Aida N. Lteif, M.D., a pediatric endocrinologist and CAH expert at Mayo Clinic, discusses the basics of CAH and what parents should know about the condition.
Each type of CAH can impact your child differently
The two main types of CAH are classic and nonclassic. For children with classic CAH — the more severe form of the condition — Dr. Lteif says they will need lifelong treatment and medical support using medications that replace and help balance the different hormones.
In general, classic CAH is found at birth or soon after with routine newborn screening tests — or when tests are done in a baby with genitalia that is not typical. In classic CAH, atypical genitalia are caused by an excess of androgens in the body.
Less commonly, classic CAH is discovered when the child becomes ill due to low levels of cortisol or low levels of cortisol and aldosterone. This is called adrenal crisis, which is a serious and life-threatening complication of classic CAH. Adrenal crisis can impact children and adults who have CAH. Signs of adrenal crisis in infants include poor feeding, vomiting, sleepiness, dehydration and poor weight gain.
With nonclassic CAH, there are typically no symptoms at birth. Symptoms may begin in childhood, adolescence or young adulthood. Some people with nonclassic CAH may never experience any bothersome or significant symptoms and may not need treatment.
Children with nonclassic CAH may show signs of early puberty such as rapid bone maturation or premature development of hair growth and body odor. Adolescents and adults may have acne, irregular menstruation and fertility issues. Certain features caused by androgen excess, such as facial hair or a deeper voice, can develop in some girls. Young people with classic CAH may experience these symptoms as well.
In short, Dr. Lteif says the type of CAH will likely determine how your child is impacted and the type of treatment your child may need.
Education is your ally
Understanding the differences between the classic and nonclassic types of CAH — and how they may impact your child’s health and development — is an important first step.
But it also can be helpful for parents to seek continuous education on CAH, especially when it comes to preventing, identifying and responding to potential symptoms.
Dr. Lteif recommends discussing the following questions with your healthcare team.
If your child has classic CAH:
- What is the medication plan? What should I give my child on a day-to-day basis? When should the medications be increased or adjusted?
- Are there side effects of the medication?
- What should I do when my child is ill? How will an illness impact medication and dose?
- If my child is unable to take medication by mouth, what other options are there?
- Can you teach me to administer an injection in the case of an emergency?
- Should my child wear a medical alert bracelet? What should we write on it?
- What information should I give to the school or child care?
- How will treatment affect my child’s puberty and growth?
If your child has classic or nonclassic CAH:
- Should other family members be tested?
- Is my child’s rate of growth appropriate for my child’s age?
- Do you see any signs of early puberty?
- What labs and imaging tests does my child need and how often?
- What are the options if my child experiences early puberty, acne or irregular menstruation?
Consider seeking the advice of multiple specialists
Dr. Lteif recommends working with a team of specialists who coordinate with one another, rather than consulting solely with a pediatric endocrinologist or a single healthcare professional. A multispecialty team may include an endocrinologist to address hormone issues, a urologist to help treat urinary tract conditions, a geneticist, a gynecologist and mental health professionals.
Seeking out a multidisciplinary team is especially important for children with classic CAH, says Dr. Lteif. “Parents may benefit from a team of experts who have experience treating children. It’s important to seek guidance from experts who have dealt with these conditions before.”
With classic CAH, some infants may have genitals that don’t fit neatly into the male or female categories. In some infants, for example, the clitoris may be large enough to resemble a penis or the labia may be partially fused and resemble a scrotum. This difference, sometimes referred to as virilization, is caused by an excess of androgens. In situations where there is one common opening for the urinary and genital tracts, your healthcare team may recommend early surgery to improve function. “Parents should discuss timing and need for surgery with their team of specialists,” says Dr. Lteif. Some families choose to wait on surgery until their child is old enough to understand the situation and make their own informed choices.
As always, Dr. Lteif recommends that your healthcare team clearly explains the risks and benefits of each of those options to help you determine what treatment is necessary for your child.
Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.
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