**Core Concept**
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders caused by the deficiency of enzymes involved in the biosynthesis of cortisol and aldosterone from cholesterol in the adrenal cortex. This deficiency leads to an accumulation of precursors, which are then shunted towards the production of androgens, resulting in virilization of female infants and other clinical manifestations.
**Why the Correct Answer is Right**
The most common form of CAH is 21-hydroxylase deficiency, which accounts for approximately 90-95% of cases. The enzyme 21-hydroxylase is crucial for the conversion of 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol, a precursor to cortisol. Without this enzyme, the adrenal glands produce excessive amounts of androgens, leading to virilization in females and other symptoms. The deficiency of 21-hydroxylase is due to mutations in the CYP21A2 gene.
**Why Each Wrong Option is Incorrect**
* **Option A:** 11-hydroxylase deficiency is another form of CAH, but it is less common than 21-hydroxylase deficiency and typically presents with hypertension and hypokalemia.
* **Option B:** 17-hydroxylase deficiency is a rare form of CAH that results in decreased production of cortisol, androgens, and estrogens.
* **Option D:** 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) deficiency is a rare form of CAH that affects the production of all steroid hormones.
**Clinical Pearl / High-Yield Fact**
The newborn screening test for CAH typically measures the levels of 17-hydroxyprogesterone (17-OHP) in blood samples, which helps in the early diagnosis and treatment of 21-hydroxylase deficiency.
**Correct Answer: A. 21-hydroxylase deficiency.**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.