Question

Given below are two statements : One is labelled as Assertion (A) and the other is labelled as Reason (R). Assertion (A) : Adrenogenital syndrome is a cause for female pseudo hermaphroditism. Reasons (R) : It is inherited as X-linked recessive gene which causes diminished response to androgens. In the light of the above statements, choose the most appropriate answer from the options given below :

• A. \( \text{Both (A) and (R) are correct and (R) is the correct explanation of (A)} \)
• B. \( \text{Both (A) and (R) are correct but (R) is NOT the correct explanation of (A)} \)
• C. \( \text{(A) is correct but (R) is not correct} \)
• D. \( \text{(A) is not correct but (R) is correct} \)

Hint:

\textbf{Endocrinology and Genetics: Congenital Adrenal Hyperplasia.} Remember that CAH is typically caused by autosomal recessive gene defects leading to enzyme deficiencies in steroidogenesis, resulting in androgen excess. Androgen insensitivity syndrome, on the other hand, is an X-linked recessive condition where individuals with a Y chromosome are unable to respond to androgens.

Answer 1

The Correct Option is C

Let's analyze the Assertion and the Reason: Assertion (A): Adrenogenital syndrome is a cause for female pseudo hermaphroditism. Adrenogenital syndrome, also known as congenital adrenal hyperplasia (CAH), involves the overproduction of androgens by the adrenal glands. In females with CAH, this excess androgen production during fetal development can lead to virilization of the external genitalia, resulting in ambiguous genitalia at birth, which is the definition of female pseudohermaphroditism. Therefore, Assertion (A) is correct. Reasons (R): It is inherited as X-linked recessive gene which causes diminished response to androgens. The most common cause of adrenogenital syndrome (CAH) is a deficiency in the enzyme 21-hydroxylase, which is inherited as an autosomal recessive trait, not X-linked recessive. This enzyme deficiency leads to decreased cortisol production and a compensatory increase in ACTH, stimulating the adrenal glands to produce excess androgens. Furthermore, the mechanism in CAH involves excess androgen production, not a diminished response to androgens (which is characteristic of androgen insensitivity syndrome). Therefore, Reason (R) is not correct. In conclusion, Assertion (A) is correct, but Reason (R) is not correct.