We spoke with Dr Abhishek Chopra, Senior Consultant – Paediatrician and Neonatologist at Cloudnine Group of Hospitals, Punjabi Bagh, New Delhi, to understand congenital adrenal hyperplasia, its effects on newborns and why early screening is important.
What Is Congenital Adrenal Hyperplasia?
“Congenital adrenal hyperplasia is a group of inherited conditions in which the adrenal glands cannot make certain hormones normally.”- Dr Abhishek Chopra, Senior Consultant – Paediatrician and Neonatologist at Cloudnine Group of Hospitals, Punjabi Bagh, New Delhi
- Cortisol, which helps the body respond to stress
- Aldosterone, which helps maintain the right balance of salt and fluids
What Causes Congenital Adrenal Hyperplasia?
CAH happens because of changes in certain genes that help the adrenal glands make hormones. The most common type is caused by a problem with an enzyme called 21-hydroxylase.When this enzyme does not work properly, the body may not make enough cortisol and, in some babies, aldosterone. At the same time, the adrenal glands may produce too many androgens, which are hormones involved in growth and sexual development.
CAH is an inherited condition. A baby can develop it by inheriting certain gene changes from both parents.
What Are the Different Types of CAH?
CAH can range from serious to mild. It is mainly divided into classic CAH and nonclassic CAH.Classic CAH includes two forms: salt-wasting CAH and simple virilising CAH.
1. Salt-Wasting CAH
This is the more serious form of classic CAH. The baby does not make enough aldosterone, which can cause excessive salt and fluid loss.Without treatment, babies may develop dehydration, vomiting, poor feeding, weakness, low blood pressure, and an adrenal crisis.
2. Simple Virilising CAH
In this form, the adrenal glands produce too many androgens. This can affect sexual development and growth.Some baby girls may have differences in the appearance of their external genitals at birth. However, not every baby with this form will have obvious physical signs.
3. Nonclassic CAH
Nonclassic CAH is a milder form and usually does not cause serious problems in newborns. Signs may appear later in childhood or adulthood and can include early puberty, acne, or excess body hair.Why Is Newborn Screening Important?
A baby with CAH may look healthy at birth, even when they have a serious form of the condition. Newborn screening can identify at-risk babies before symptoms become severe.Early detection allows doctors to start treatment when needed and reduce the risk of complications, especially adrenal crisis in babies with salt-wasting CAH.
How Is CAH Detected in Newborn Screening?
Newborn screening for CAH usually uses a small blood sample taken from the baby's heel. The sample is tested for 17-hydroxyprogesterone (17-OHP), which may be higher in babies with CAH.If the result is abnormal, it does not always mean the baby has CAH. Prematurity, low birth weight, or birth stress can also affect the result.
Doctors may recommend further tests, such as:
- Repeat blood tests
- Other hormone tests
- Genetic testing, if needed
How Is Congenital Adrenal Hyperplasia Treated?
Treatment depends on the type of CAH and the baby's hormone levels.- Hydrocortisone may be given to replace the cortisol the body cannot make enough of.
- Babies with salt-wasting CAH may also need fludrocortisone to replace aldosterone.
- Some babies may need extra salt (sodium) as advised by their doctor.
- Regular check-ups help doctors adjust medicines as the child grows or becomes unwell.
What Should Parents Do If the Screening Result Is Abnormal?
An abnormal screening result does not necessarily mean your baby has CAH. Doctors may recommend repeat or additional tests to confirm the result.Parents should:
- Follow up with the healthcare team promptly.
- Watch for poor feeding, vomiting, unusual sleepiness, or dehydration.
- Follow the specialist's advice if further testing is needed.
CAH may affect a newborn’s hormones and salt levels, sometimes before clear signs appear. Screening can help doctors recognise the condition early. If a result is abnormal, timely follow-up and further testing can help ensure the baby receives appropriate care when needed.
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FAQs on What Is Congenital Adrenal Hyperplasia and Why Is Newborn Screening Important?
- Is CAH present from birth?
Yes. CAH is an inherited condition caused by gene changes that affect how the adrenal glands produce certain hormones. - Can CAH affect a baby’s growth?
Yes. Hormone changes caused by CAH can affect growth and development, so children may need regular monitoring as they grow. - Is CAH the same in every baby?
No. CAH can vary in severity. Some babies have serious hormone problems, while others have milder forms with fewer symptoms.