NOTE:👀 For a better view, tap/click the image to zoom and read all details.
- Long tap on the image to download it (Mobile) 📱
- Right-click on the image and select “Save Image As…” to download it (Desktop) 💻
Adrenogenital Syndrome (Congenital Adrenal Hyperplasia – CAH) refers to a group of inherited disorders caused by enzyme deficiencies in adrenal steroid biosynthesis. The most common defect is 21-hydroxylase deficiency, which leads to impaired cortisol and often aldosterone production, with a compensatory increase in ACTH levels. This results in adrenal hyperplasia and excess androgen production.
CAH is broadly classified into classic (severe) and non-classic (mild) forms. The classic type includes salt-wasting and simple virilizing variants. In salt-wasting CAH, aldosterone deficiency leads to life-threatening electrolyte imbalance, while simple virilizing CAH mainly presents with androgen excess. Non-classic CAH is milder and may present later with symptoms like hirsutism or menstrual irregularities.
Clinically, female infants may present with ambiguous genitalia, while males may appear normal at birth but develop early virilization. Both genders may show signs of adrenal insufficiency in severe cases.
Diagnosis is based on elevated 17-hydroxyprogesterone levels, electrolyte imbalance, and genetic testing. Newborn screening plays a critical role in early detection.
Management includes glucocorticoid replacement therapy, mineralocorticoids (if needed), and monitoring for growth and development. Early diagnosis and treatment are essential to prevent complications and improve outcomes.
This conceptual diagram helps students quickly revise the pathophysiology, classification, and diagnostic approach of CAH for exams.
For more posts like this just click on the below topics: