Question

Given below are two statements : One is labelled as Assertion (A) and the other is labelled as Reason (R). Assertion (A) : The principle pathological abnormality in Klinefelter syndrome is dysgenesis of the seminiferous tubules. Reasons (R) : This is evident from adulthood and progress with age. By adolescence, hyalinization and fibrosis are present within seminiferous tubules and Leydig cell function is impaired, resulting in hypogonadism. In the light of the above statements, choose the most appropriate answer from the options given below :

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

Hint:

\textbf{Genetics: Klinefelter Syndrome.} Remember that Klinefelter syndrome (typically XXY) results in congenital dysgenesis of the seminiferous tubules, which progresses with age, leading to fibrosis, hyalinization, and impaired testicular function, ultimately causing hypogonadism.

Answer 1

The Correct Option is C

Let's analyze the Assertion and the Reason regarding Klinefelter syndrome: Assertion (A): The principle pathological abnormality in Klinefelter syndrome is dysgenesis of the seminiferous tubules. Klinefelter syndrome is a genetic condition in males, most commonly due to an XXY karyotype. The primary pathological finding in the testes of individuals with Klinefelter syndrome is indeed the abnormal development or dysgenesis of the seminiferous tubules. These tubules, responsible for sperm production, are typically small, hyalinized, and fibrotic. Therefore, Assertion (A) is true. Reasons (R): This is evident from adulthood and progress with age. By adolescence, hyalinization and fibrosis are present within seminiferous tubules and Leydig cell function is impaired, resulting in hypogonadism. While it's true that hyalinization and fibrosis of the seminiferous tubules become more evident with age and contribute to hypogonadism in Klinefelter syndrome, the dysgenesis of the seminiferous tubules is present from birth due to the abnormal chromosomal complement. The progression of these changes through adolescence exacerbates the initial abnormality. The impaired Leydig cell function also contributes to hypogonadism, but the reason doesn't fully capture the primary congenital abnormality. Therefore, while parts of Reason (R) are true (hyalinization, fibrosis, impaired Leydig cell function leading to hypogonadism), it doesn't accurately describe the initial and principle pathological abnormality as dysgenesis present from development. Thus, Reason (R) is false as an explanation for the primary congenital defect. Therefore, Assertion (A) is true, but Reason (R) is false as a complete and accurate explanation of the fundamental pathological abnormality from development.