Sex Determination MCQ Quiz | Genetics

Quiz Introduction

Welcome to this specialized quiz on Sex Determination, a cornerstone of medical genetics. This quiz is designed for MBBS students to test and reinforce their understanding of the complex molecular, chromosomal, and hormonal pathways that govern sexual differentiation in humans. Covering key topics from the SRY gene’s pivotal role to the clinical manifestations of syndromes like Turner and Klinefelter, these 25 multiple-choice questions will challenge your knowledge. This is a valuable self-assessment tool to prepare for your examinations. After submitting your answers, you will receive your score, and the correct answers will be highlighted. You can also download all the questions and their correct answers in a PDF format for future revision.

1. The primary genetic switch for initiating male development in humans is the:

2. An individual with a 47,XXY karyotype presents with which of the following conditions?

3. The phenomenon of X-chromosome inactivation, leading to the formation of a Barr body, is explained by:

4. In a typical male embryo, the degeneration of the Müllerian ducts is directly caused by:

5. A 16-year-old phenotypically female patient presents with primary amenorrhea. Karyotyping reveals 46,XY. The most likely diagnosis is:

6. The development of external male genitalia is primarily dependent on the action of:

7. A deficiency in the enzyme 5-alpha reductase in a 46,XY individual would result in:

8. How many Barr bodies would be expected in the somatic cells of an individual with Turner Syndrome (45,X0)?

9. Swyer syndrome is characterized by a 46,XY karyotype but a female phenotype with streak gonads. This is typically caused by a mutation or deletion of the:

10. In the absence of hormonal influence from the gonads, the embryonic internal duct system will develop into:

11. The term for an individual possessing both ovarian and testicular tissue is:

12. The Wolffian ducts, under the influence of testosterone, develop into the:

13. Which gene is considered an “anti-testis” gene, and its duplication in an XY individual can lead to sex reversal?

14. The number of Barr bodies in a somatic cell is generally calculated as:

15. The “indifferent” gonad can develop into either a testis or an ovary. This bipotential state is a key feature of:

16. What is the expected number of Barr bodies in a male with Klinefelter syndrome (47,XXY)?

17. A 46,XX individual with female internal genitalia but virilized external genitalia likely has a disorder involving:

18. The Sertoli cells of the developing testes are responsible for producing which crucial hormone for male differentiation?

19. In XX males, the most common genetic finding is:

20. The gene product of SRY is a(n):

21. Which structure is the female analogue of the male scrotum?

22. The term “dosage compensation” in the context of sex chromosomes refers to:

23. In complete androgen insensitivity syndrome (CAIS), which of the following internal structures are typically absent?

24. What is the role of the pseudoautosomal regions (PARs) on the X and Y chromosomes?

25. A key transcription factor that is activated by SRY and is essential for testis development is: