Today, we talk about Congenital Adrenal Hyperplasia (CAH)—a genetic condition that affects the body’s ability to make certain hormones. It can cause problems with growth, puberty, salt balance, and stress response.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families diagnose and manage CAH. Early diagnosis and proper treatment help children grow normally and stay healthy.
What is CAH?
CAH is a genetic disorder that affects the adrenal glands, which sit on top of the kidneys. These glands make hormones that control stress, blood pressure, and growth. In CAH, the body does not produce enough cortisol and may have too much or too little other hormones.
Types of CAH
There are two main types:
✔ Classic CAH (Severe form) – Symptoms appear in newborns or early childhood. It can lead to serious salt loss, dehydration, and unusual hormone levels.
✔ Non-Classic CAH (Milder form) – Symptoms appear later in childhood or adulthood, affecting puberty, periods, or fertility.
💡 Classic CAH needs lifelong treatment, while non-classic CAH may have milder symptoms.
Symptoms of CAH
Classic CAH (Severe type):
✔ Dehydration and salt loss (life-threatening if untreated)
✔ Poor weight gain in newborns
✔ Unusual genital development in girls (ambiguous genitalia at birth)
✔ Early puberty in boys and girls
Non-Classic CAH (Mild type):
✔ Early puberty or excessive hair growth
✔ Irregular periods or excess facial hair in women
✔ Fertility problems in adults
💡 CAH is often detected at birth, but mild cases may go undiagnosed until puberty.
How Does CAH Run in Families?
💡 CAH is genetic, meaning it runs in families.
💡 If both parents are carriers of the faulty gene, their baby has a 25% chance of being affected.
💡 Even if parents do not have symptoms, they can still pass the gene to their children.
Dr. Roshan Daniel’s Experience with CAH
✅ Some newborns are diagnosed because of dehydration and poor weight gain.
✅ Some baby girls are diagnosed because of unusual genital appearance at birth.
✅ Some children are diagnosed later due to early puberty or fast growth.
✅ Some teenagers and adults are diagnosed due to menstrual problems or excess facial hair.
✅ Genetic testing has helped families confirm the condition and plan future pregnancies.
💡 Cost of Testing (as of February 2025):
✔ Hormone Blood Tests: ₹2,000 – ₹5,000
✔ Genetic Test for CAH (CYP21A2 Gene Analysis): ₹20,000 – ₹30,000, results in 14 working days
How is CAH Diagnosed?
Doctors use different tests to confirm CAH:
✔ Newborn Screening – A heel prick blood test done at birth.
✔ Hormone Blood Tests – Measures cortisol and other hormones.
✔ Electrolyte Tests – Checks salt balance in the body.
✔ Genetic Testing (CYP21A2 gene test) – Confirms the condition and helps with family planning.
💡 Early diagnosis helps prevent serious complications like salt loss and growth problems.
How is CAH Treated?
There is no cure, but lifelong treatment helps manage symptoms.
🔹 Cortisol Replacement (Hydrocortisone or Prednisolone) – Keeps hormone levels normal.
🔹 Salt Supplements (For Classic CAH) – Prevents dehydration and low blood pressure.
🔹 Hormone Therapy (For Non-Classic CAH) – Regulates puberty and fertility.
🔹 Surgery (For Girls with Ambiguous Genitalia) – Some may need surgery for cosmetic or medical reasons.
💡 With proper treatment, most children grow up healthy and have normal lives.
FAQs on CAH
💡 What causes CAH?
It is caused by a faulty gene (CYP21A2) that affects the adrenal glands, leading to hormone imbalance.
💡 Can CAH run in families?
Yes. If both parents are carriers, each child has a 25% chance of being affected.
💡 Can CAH be diagnosed before symptoms appear?
Yes. Newborn screening and genetic testing help detect CAH early.
✔ Parents with a family history of CAH should get genetic testing before pregnancy.
✔ Early diagnosis helps prevent life-threatening salt loss in newborns.
💡 Can CAH be diagnosed before birth?
Yes. If both parents are carriers, prenatal genetic testing (amniocentesis or CVS) can check if the baby has CAH.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with CAH live normal lives?
Yes! With proper treatment, most people live full, healthy lives.
✔ Regular medications help balance hormones.
✔ Monitoring helps prevent health problems.
✔ Women with CAH can have children with proper care.
💡 Dr. Roshan Daniel has helped many CAH patients lead healthy, normal lives.
💡 What happens if CAH is not treated?
Without treatment, CAH can lead to:
✔ Severe dehydration and salt loss (can be fatal in newborns).
✔ Early puberty and growth problems.
✔ Menstrual problems and fertility issues.
💡 Early treatment prevents these problems and helps children grow normally.
💡 Can CAH happen in future pregnancies?
Yes. If both parents are carriers, each child has a 25% chance of having CAH.
✔ Prenatal testing (₹35,000) can check if an unborn baby has it.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for CAH
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Newborn screening and hormone tests for CAH
✔ Genetic testing for CYP21A2 mutations
✔ Personalized treatment plans, including hormone therapy
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has signs of CAH or a family history, early testing can help prevent serious health issues.
Join Us in Spreading Awareness!
CAH is treatable, but early diagnosis is key. Spreading awareness about newborn screening, symptoms, and treatment options can help save lives.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right treatment at the right time.
For expert advice on genetic testing, counselling, or CAH care, contact Dr. Roshan Daniel at KIMSHealth today! 💙