My Baby's Newborn Screening Flagged Congenital Adrenal Hyperplasia (CAH)
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, Endocrine Society, CARES Foundation guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect newborn screening flagged congenital adrenal hyperplasia (cah), here is what the evidence says.
The short answer
Congenital adrenal hyperplasia (CAH) is a group of genetic conditions affecting the adrenal glands' ability to produce cortisol and sometimes aldosterone. The most common form (21-hydroxylase deficiency) affects about 1 in 15,000 births. In severe (classic) forms, the body cannot make enough cortisol to respond to stress and may not properly regulate salt balance. CAH is detected on newborn screening in most states. With appropriate hormone replacement therapy, children with CAH grow up healthy and active. The key is consistent medication, stress dosing during illness, and regular follow-up with a pediatric endocrinologist.
Key takeaways
- Congenital adrenal hyperplasia (CAH) is a group of genetic conditions affecting the adrenal glands' ability to produce cortisol and sometimes aldosterone. The most common form (21-hydroxylase deficiency) affects about 1 in 15,000 births. In severe (classic) forms, the body cannot make enough cortisol to respond to stress and may not properly regulate salt balance. CAH is detected on newborn screening in most states. With appropriate hormone replacement therapy, children with CAH grow up healthy and active. The key is consistent medication, stress dosing during illness, and regular follow-up with a pediatric endocrinologist.
- Usually normal when: Your baby is on appropriate hormone replacement and growing well
- Call your doctor if: Your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. Give the injectable stress dose and go to the emergency room immediately. Tell the ER: "My baby has CAH and needs IV stress dose hydrocortisone"
- Varies by age — see the age-by-age breakdown below
“Fever itself is not an illness — rather, it is a sign or symptom that the body is fighting an infection. Fever stimulates certain defenses, such as the white blood cells, which attack and destroy invading bacteria.”
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What Parents Should Know
According to NIH, Endocrine Society, CARES Foundation guidelines, congenital adrenal hyperplasia (CAH) is a group of genetic conditions affecting the adrenal glands' ability to produce cortisol and sometimes aldosterone. The most common form (21-hydroxylase deficiency) affects about 1 in 15,000 births. In severe (classic) forms, the body cannot make enough cortisol to respond to stress and may not properly regulate salt balance. CAH is detected on newborn screening in most states. With appropriate hormone replacement therapy, children with CAH grow up healthy and active. The key is consistent medication, stress dosing during illness, and regular follow-up with a pediatric endocrinologist. At 0-1 month (newborn period), if newborn screening flags CAH, confirmatory testing is done immediately. In the salt-wasting form (the most severe), babies can become critically ill within the first 1-2 weeks of life with an adrenal crisis — vomiting, dehydration, dangerous electrolyte imbalances, and shock. This is a medical emergency. Treatment begins with hydrocortisone (cortisol replacement) and fludrocortisone (aldosterone replacement). In baby girls, the classic form can cause virilized (masculinized) genitalia, which may require evaluation but does not affect the baby's gender — she is still female. It is generally considered normal when your baby is on appropriate hormone replacement and growing well. However, you should contact your pediatrician promptly if your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. Give the injectable stress dose and go to the emergency room immediately. Tell the ER: "My baby has CAH and needs IV stress dose hydrocortisone".
Normal vs. Concerning
When to Seek Immediate Care
- Your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. Give the injectable stress dose and go to the emergency room immediately. Tell the ER: "My baby has CAH and needs IV stress dose hydrocortisone"
- Your baby is lethargic, pale, or floppy — this may be an adrenal crisis. Give the injectable stress dose and call 911
- Your baby has a high fever and is not responding to oral stress dosing — seek emergency care with the injectable dose on hand
By Age
What to expect by age
0-1 month (newborn period)
If newborn screening flags CAH, confirmatory testing is done immediately. In the salt-wasting form (the most severe), babies can become critically ill within the first 1-2 weeks of life with an adrenal crisis — vomiting, dehydration, dangerous electrolyte imbalances, and shock. This is a medical emergency. Treatment begins with hydrocortisone (cortisol replacement) and fludrocortisone (aldosterone replacement). In baby girls, the classic form can cause virilized (masculinized) genitalia, which may require evaluation but does not affect the baby's gender — she is still female.
1-6 months
Once on appropriate medication, most babies stabilize well. Medication doses need regular adjustment based on blood work (17-hydroxyprogesterone, electrolytes, renin). Your endocrinologist will teach you "stress dosing" — giving extra hydrocortisone during illness, fever, or physical stress to prevent adrenal crisis. This is the most critical thing parents of children with CAH learn. Your child should wear a medical alert bracelet.
6-12 months
Growth and development typically proceed normally with appropriate treatment. Medication adjustments continue based on growth and lab work. As your baby begins daycare or encounters more illnesses, knowing when and how to stress dose becomes essential. Make sure all caregivers understand that your baby needs emergency hydrocortisone during severe illness and know how to administer an injectable stress dose.
1 year+
Children with well-managed CAH grow and develop normally. Long-term management involves balancing adequate cortisol replacement (to prevent adrenal crisis and excess androgen production) without over-treatment (which can slow growth). Regular monitoring with a pediatric endocrinologist is essential. During childhood, the condition is primarily managed with daily oral medications and stress dosing when needed.
What to Tell Your Pediatrician
- Describe when you first noticed newborn screening flagged congenital adrenal hyperplasia (cah) and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your baby is not gaining weight well or seems unusually tired despite medication.
- Mention if you are unsure whether your baby needs stress dosing during a particular illness.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- Your baby is on appropriate hormone replacement and growing well
- Your baby's lab values are in acceptable ranges and medication is adjusted regularly
- You understand stress dosing and have emergency supplies ready
- Your baby is not gaining weight well or seems unusually tired despite medication
- You are unsure whether your baby needs stress dosing during a particular illness
- Your baby's lab values are not staying in range despite medication adjustments
- You have questions about long-term management, growth, or future fertility
- Your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. Give the injectable stress dose and go to the emergency room immediately. Tell the ER: "My baby has CAH and needs IV stress dose hydrocortisone"
- Your baby is lethargic, pale, or floppy — this may be an adrenal crisis. Give the injectable stress dose and call 911
- Your baby has a high fever and is not responding to oral stress dosing — seek emergency care with the injectable dose on hand
What You Can Do at Home
- Keep track of when you notice newborn screening flagged congenital adrenal hyperplasia (cah) — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your baby is on appropriate hormone replacement and growing well — this is generally within the range of normal.
- At 0-1 month (newborn period), focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. Give the injectable stress dose and go to the emergency room immediately. Tell the ER: "My baby has CAH and needs IV stress dose hydrocortisone".
Related Conditions
Related Resources
Frequently asked questions
Is newborn screening flagged congenital adrenal hyperplasia (cah) normal?
When should I call the doctor about newborn screening flagged congenital adrenal hyperplasia (cah)?
When is newborn screening flagged congenital adrenal hyperplasia (cah) normal?
What causes newborn screening flagged congenital adrenal hyperplasia (cah)?
What should I mention to my pediatrician about newborn screening flagged congenital adrenal hyperplasia (cah)?
Is newborn screening flagged congenital adrenal hyperplasia (cah) normal at 0-1 month (newborn period)?
Is newborn screening flagged congenital adrenal hyperplasia (cah) normal at 1-6 months?
Should I go to the ER for newborn screening flagged congenital adrenal hyperplasia (cah)?
Does newborn screening flagged congenital adrenal hyperplasia (cah) go away on its own?
References
- [1]National Institute of Child Health and Human Development. Congenital Adrenal Hyperplasia. NIH
- [2]Endocrine Society. Clinical Practice Guideline: Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. JCEM, 2018. Endocrine Society
- [3]CARES Foundation. About CAH. CARES Foundation
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss My Baby's Newborn Screening Flagged Congenital Adrenal Hyperplasia (CAH).
Things to mention
- Describe when you first noticed newborn screening flagged congenital adrenal hyperplasia (cah) and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your baby is not gaining weight well or seems unusually tired despite medication.
- Mention if you are unsure whether your baby needs stress dosing during a particular illness.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- Your baby is not gaining weight well or seems unusually tired despite medication
- You are unsure whether your baby needs stress dosing during a particular illness
- Your baby's lab values are not staying in range despite medication adjustments
Urgent signs to report immediately
- Your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. Give the injectable stress dose and go to the emergency room immediately. Tell the ER: "My baby has CAH and needs IV stress dose hydrocortisone"
- Your baby is lethargic, pale, or floppy — this may be an adrenal crisis. Give the injectable stress dose and call 911
- Your baby has a high fever and is not responding to oral stress dosing — seek emergency care with the injectable dose on hand
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
2,705 evidence-based guides6 authoritative medical sources5 medical advisory board members
Related Resources
Bottom line
Most cases of newborn screening flagged congenital adrenal hyperplasia (cah) are normal. Talk to your pediatrician if your baby is vomiting and cannot keep down medication — this can lead to adrenal crisis. give the injectable stress dose and go to the emergency room immediately. tell the er: "my baby has cah and needs iv stress dose hydrocortisone".
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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How to Advocate for Your Child's Needs
You know your child better than anyone, and your observations matter. If you feel something is not right with your child's development or health, you have every right to ask questions, request evaluations, and seek second opinions. Advocating for your child is not being difficult - it is being a good parent.