Klinefelter Syndrome : Definition, Pathogenesis, Symptoms, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

Klinefelter Syndrome : Definition, Pathogenesis, Symptoms, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

“Klinefelter syndrome is best defined as male hypogonadism that occurs when there are two or more X – chromosomes and one or more Y – chromosome.”

1.] Klinefelter syndrome is an example of sex chromosome trisomy.

2.] Karyotype of person suffering from Klinefelter syndrome is 47 + XXY.

3.] This syndrome get its name from the scientist Harry Klienifelter.


In Klinefelter syndrome plasma gonadotropin levels, particularly follicle stimulating hormone [FSH], are consistently elevated, whereas the testosterone levels are variably reduced. The ratio of estrogen and testosterone determines the degree of feminization in individual cases. In some, patients the testicular tubules are totally atrophied and replaced by pink, hyaline, collagenous ghosts. This dysgenesis is manifested by apparently normal tubules interspersed with atrophic tubules. Leydig cells appears prominent, owing to the atrophy and the crowding of tubules. In Klinefelter syndrome, karyotype of the person is 47 +XXY, which complements the result of non – dysfunction of one of the parent cell during the meiotic division.


Following are the symptoms of Klinefelter syndrome :

  • Gyaecomastia
  • Osteoporosis
  • Testicular atrophy
  • Increase in length between the soles of pubic bones
  • Long stature
  • Small atrophic tests
  • Small penis
  • Infertility
  • Lack of secondary male characteristics
  • Less I.Q.
  • Reduced spermatogenesis


Klinefelter syndrome

The above image is taken for education purpose only from slideshare.net


1.] The female gonad are ?

a. The XX chromosome

b. The external sexual organ

c. The ovaries

d. The vaginal glands

2.] The parental androgen theory proposes that female homosexuality occur because of ?

a. Underexposure to prenatal androgens

b. Overexposure to testosterone

c. Overexposure to prenatal androgens

d. Underexposure to estrogen

3.] Which characteristic is not associated with Klinefelter’s syndrome ?

a. Undersized penis

b. Inability to produce sperm

c. High sexual motivation

d. Development of breast

4.] An individual with 5 – alpha reductase syndrome is ?

a. Genetically male but with female appearance

b. Genetically female but with male appearance

c. Male sex but female gender

d. Female sex but male gender

5.] The term which is used to describe a person with both male and female reproductive tissues ?


b. Intersex

c. Pseudohermaphrodite

d. Aphrodite

6.] Klinefelter’s syndrome get its name by which scientist ?

a. Harry Klinefelter

b. Langdon Down

c. Both

d. None

7.] Klinefelter’s syndrome was discovered in which year ?

a. 1949

b. 1948

c. 1932

d. 1942

8.] Klinefelter’s syndrome is caused due to the extra copy of which chromosome ?

a. X – Chromosome

b. Y – Chromosome

c. Both X and Y

d. None of the above

9.] The karyotype of Klinefelter’s syndrome is ?

a. 47 + XXY

b. 46 + XXY

c. 47 + XYY

4d. 7 + XXYY

10.] Which of the following is not a sex chromosome atypical condition ?

a. Turner’s syndrome

b. Klinefelter’s syndrome

c. XXX syndrome

d. YYY syndrome


1.] (c) The ovaries

2.] (c) Overexposure to prenatal androgens

3.] (c) High sexual motivation

4.] (a) Genetically male but with female appearance

5.] (b) Intersex

6.] (a) Harry Klinefelter

7.] (d) 1942

8.] (a) X – Chromosome

9.] (a) 47 + XXY

10.] (d) YYY syndrome


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1.] Textbook of Pathology By Harsh Mohan; 7th edition; Page no.259.

2.] Robbin’s Basic Pathology; 5th edition; Page no.159 – 160.

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