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Newborns are usually screened for congenital adrenal hyperplasia (CAH) with a routine blood spot test, although the screening test doesn’t identify every form of CAH. CAH is also sometimes detected with prenatal testing. This allows lifesaving treatment to begin shortly after birth.
However, it’s still important to recognize the symptoms of a sick newborn. Keeping an eye out for signs of CAH can help ensure your baby’s treatment is working properly.
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You may know that CAH is a genetic condition that affects the adrenal glands, which are small organs on top of the kidneys that produce hormones. CAH alters the production of hormones like cortisol, aldosterone, and androgens.
About 95 percent of CAH cases are caused by 21-hydroxylase deficiency. This means the body lacks enough working 21-hydroxylase, an enzyme (protein) that helps make cortisol and aldosterone.
There are two main forms: classic CAH and nonclassic CAH.
This form is usually diagnosed at birth because routine newborn screening primarily detects classic CAH caused by 21-hydroxylase deficiency.
Newborn screening can sometimes miss CAH, so symptoms still need to be checked even after a normal result.
This form is most often diagnosed later in childhood, adolescence, or even adulthood.
Some people with nonclassic CAH never have symptoms.
If you’re unsure what to look for or you want a handy list that’s easy to access, you’re in the right place.
Here’s what to know about possible congenital adrenal hyperplasia symptoms in your newborn.
Vomiting may occur in newborns with CAH, but sometimes it can be hard to tell the difference between vomiting and a large, normal spit-up. Spit-up usually comes out easily with a burp, while vomit tends to be more forceful.
The difference between a large, normal spit-up and vomiting can be tricky to spot, especially for first-time parents or if you haven’t seen a baby spit up before. If you’re unsure, reach out for guidance from your pediatrician or pediatric endocrinology team (specialists in hormone-related conditions in children).
Vomiting can be a sign of an adrenal crisis, a medical emergency caused by too little cortisol. Get emergency help immediately if you suspect an adrenal crisis, regardless of how often your baby vomits.
Hyperpigmentation (darkening of the skin) can be a sign of congenital adrenal hyperplasia in newborns, but it can be hard to recognize. It may affect the whole body or be more noticeable around the genitals and nipples or in skin creases. If your baby’s skin looks darker than usual in some areas, see your pediatrician or pediatric endocrinologist to find out what’s going on.
Vomiting and poor feeding can lead to dehydration. If untreated, salt-wasting CAH can also cause your baby to lose too much sodium and water through their urine, which can result in dangerously low fluid levels in the body.
A dehydrated newborn may have dry eyes and a dry mouth. The soft spot on top of their head might look sunken.
If you press on a baby’s thumbnail until it turns pale, it should return to its original color again quickly — if it takes more than two seconds, this may be a sign of dehydration. These warning signs mean you should take your baby to a healthcare provider right away.
Newborns with untreated CAH may not eat very much or very well. Poor feeding can happen whether your baby is breastfed or given formula.
There are several reasons a newborn might not eat well. If your child isn’t eating well after a CAH diagnosis or has other symptoms from this list, talk to a doctor right away to find out what to do next.
Female newborns with classic CAH may have atypical genitalia that look different from typical female anatomy. Female babies have ovaries, a uterus, and fallopian tubes internally, even when their external genitalia look different.
For example, the labia may be fused together. The clitoris may be visibly enlarged.
When the medical team notices these changes at birth, they can arrange any tests and treatment your baby needs.
CAH may also cause low blood sugar levels in your newborn, including when they become sick. It may take a blood test to figure out if your newborn has low blood sugar because some babies won’t have any symptoms.
However, a baby with low blood sugar may experience shaking or tremors, blue or gray skin around the lips, trouble staying warm, breathing problems, floppy muscles, irritability, and difficulty eating.
If your newborn shows any signs that their blood sugar may be too low, seek care immediately. If their lips or face suddenly look blue or gray, or they have trouble breathing, call 911.
A newborn with salt-wasting CAH may also have very low sodium (salt) levels in their blood. This happens because their body doesn’t make enough aldosterone, the hormone needed to control sodium levels by holding on to salt, leading to salt-wasting. Low sodium may cause vomiting, seizures, or unusual muscle weakness.
Sodium levels are usually measured with a blood test, which your baby’s pediatric or endocrinology team will order if they suspect a problem.
Weight loss is also common in untreated babies with CAH. This is beyond the typical weight loss that babies experience in the first few days after birth.
If your baby doesn’t regain this weight within two weeks or continues to lose weight, talk to their healthcare team right away. If your baby is being treated for CAH, they may need additional treatment. If your baby hasn’t been diagnosed, their healthcare team may recommend tests.
Some infants with CAH can develop an adrenal crisis. An adrenal crisis is a medical emergency.
In newborns with salt-wasting CAH, the crisis can involve vomiting, poor feeding, dehydration, sodium loss, high potassium, excess acid in the blood, and hypotension (low blood pressure). Without prompt treatment, it can lead to shock.
A baby experiencing an adrenal crisis may have a very rapid heart rate, be extremely irritable, or go into a coma. If you suspect your baby is in adrenal crisis, call 911 for emergency help immediately. An adrenal crisis is life-threatening and requires treatment as soon as possible.
Metabolic acidosis (too much acid in the blood) is usually diagnosed with a blood test. Your newborn may have a very fast heart rate, experience changes in their breathing, seem weaker than usual, stop eating, or start vomiting.
All of these are signs that it’s time to get medical care as soon as possible to help your baby feel better.
Even after an initially normal newborn screen, a newborn with vomiting, poor feeding, significant weight loss, dehydration, unusual sleepiness, or other possible signs of salt-wasting CAH requires prompt medical evaluation. Recognizing congenital adrenal hyperplasia symptoms early can make a critical difference in your baby’s health, even if they are already receiving treatment.
Consult a healthcare professional immediately if you notice concerning symptoms. With the right care and monitoring, babies with CAH can grow and thrive. Early treatment helps manage symptoms and supports healthy development.
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