Swyer Syndrome

·         Swyer Syndrome is a rare disorder of sex development (DSD).

• It is associated with 46,XY chromosomes but female external genitalia.
• The condition involves non-functional/underdeveloped gonads (streak gonads).
• Due to impaired testicular development, there is inadequate production of testosterone and Anti-Müllerian Hormone (AMH).
• Individuals usually have:
  • Female external genitalia.
  • Underdeveloped or absent secondary sexual characteristics.
  • Primary amenorrhea.
• The uterus and fallopian tubes are generally present because of insufficient AMH production.
• It is associated with an increased risk of gonadal tumours, so medical management may include removal of the streak gonads.
• Hormone replacement therapy may be used to induce and maintain secondary sexual characteristics.

UPSC Prelims Question

Q. With reference to Swyer Syndrome, consider the following statements:

1. It is associated with a 46,XY chromosome complement.
2. Individuals generally have female external genitalia.
3. Functional testes produce normal levels of testosterone in this condition.
4. It may be associated with an increased risk of gonadal tumours.

Which of the statements given above is/are correct?

A. 1 and 2 only
B. 1, 2 and 4 only
C. 2 and 3 only
D. 1, 3 and 4 only

Answer: B. 1, 2 and 4 only

Explanation: Swyer Syndrome involves 46,XY sex chromosomes with impaired testicular development, resulting in female external genitalia and streak gonads. The streak gonads carry a risk of gonadal tumours.