Congenital Adrenal Hyperplasia
Full Form of CAH
What is CAH?
Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders affecting the adrenal glands, which produce essential hormones such as cortisol, aldosterone, and androgens. The most common form, 21-hydroxylase deficiency, leads to an imbalance of these hormones, causing symptoms like ambiguous genitalia in newborns, rapid growth in childhood, early puberty, and salt-wasting crises. In India, CAH is one of the most prevalent endocrine disorders, with a reported incidence of 1 in 10,000 to 15,000 live births, though actual numbers may be higher due to underdiagnosis. Newborn screening programs in several Indian states now include CAH testing to enable early intervention. Diagnosis is confirmed through blood tests measuring 17-hydroxyprogesterone (17-OHP) levels and genetic analysis. Management involves lifelong hormone replacement therapy with glucocorticoids and mineralocorticoids, along with monitoring during stress, illness, or surgery. Without treatment, severe salt-wasting forms can be life-threatening. CAH is also a topic of importance for medical exams like NEET PG and AIIMS, where questions on adrenal disorders and congenital enzyme defects frequently appear. Awareness and genetic counseling are crucial in affected families to prevent complications and enable timely care.
CAH का फुल फॉर्म
जन्मजात अधिवृक्क अतिवृद्धि
Example
The paediatrician ordered a 17-OHP test after noticing ambiguous genitalia in the newborn, suspecting CAH.