Congenital Adrenal Hyperplasia (CAH) is a rare genetic disorder that affects the adrenal glands, leading to hormone imbalances that can cause serious health complications. The most common form of CAH results in a deficiency of cortisol and aldosterone, which can cause dangerous salt loss (salt-wasting) and dehydration in newborns.
📌 Fact: CAH occurs in about 1 in 15,000 newborns worldwide and is one of the most common inherited adrenal disorders.
🩺 What Is CAH and How Does It Affect the Body?
The adrenal glands, located on top of the kidneys, produce essential hormones that regulate metabolism, stress response, and salt balance. In CAH, a genetic mutation leads to deficiency of an enzyme called 21-hydroxylase, which is crucial for producing:
🔹 Cortisol – Helps the body manage stress and maintain blood sugar levels.
🔹 Aldosterone – Regulates salt and water balance to control blood pressure.
🔹 Androgens – Male sex hormones that affect development.
Without enough cortisol and aldosterone, the body loses excessive salt through urine, leading to low blood pressure, dehydration, and potentially life-threatening adrenal crises.
📌 Fact: Salt-wasting CAH is the most severe form of the condition and requires immediate medical attention.
🚨 What Are the Signs of CAH in Newborns?
Symptoms of CAH can appear within the first few weeks of life and may include:
❌ Severe dehydration and vomiting (signs of salt-wasting crisis).
❌ Low blood pressure and shock (due to extreme salt loss).
❌ Abnormal genital development in females (due to excess androgen production).
❌ Poor weight gain and lethargy.
📌 Fact: Newborn screening programs now test for CAH in many countries, allowing early diagnosis and treatment.
🛑 How Is CAH Treated?
CAH cannot be cured, but it can be managed with lifelong hormone replacement therapy to maintain normal hormone levels. Treatment includes:
✔ Cortisol (Hydrocortisone or Prednisone) – Replaces the missing stress hormone.
✔ Aldosterone (Fludrocortisone) – Helps regulate salt and water balance.
✔ Salt Supplements – Needed for infants with salt-wasting CAH.
📌 Fact: With proper treatment, most individuals with CAH can lead healthy lives.
📌 Final Thoughts
Congenital Adrenal Hyperplasia (CAH) is a serious but treatable genetic disorder that affects hormone production and salt balance. Early detection through newborn screening and hormone therapy is crucial to preventing life-threatening adrenal crises and ensuring normal development.
