Which of the following syndrome is an example of disorders of sex chromosomes?
Correct Answer: Klinefelter's syndrome
Description: The classic form of Klinefelter's syndrome occur due to meiotic non disjunction of sex chromosome during gametogenesis. Klinefelter's syndrome is characterized by small testes, infeility, gynecomastia, eunuchoid propoions, and incomplete virilization in phenotypic males. Biopsies done shows seminiferous tubule hyalinization and azoospermia. They are at increased risk of breast tumors, thromboembolic disease, learning difficulties, obesity, diabetes mellitus, varicose veins. Laboratory investigations shows elevated levels of FSH and LH and low levels of testosterone reflecting primary gonadal failure. Levels of estradiol is increased due to chronic Leydig cell stimulation by LH and because of aromatization of androstenedione by adipose tissue. The increased estradiol/testosterone ratio results in gynecomastia. Ref: Harrison's Principles of Internal Medicine, 18e chapter 349, By John C. Achermann; J. Larry Jameson.
Category:
Medicine
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now