by hafiz m Waseem university of education Lahore

3.  Introduction
 History
 Causes
 Symptoms
 In babies
 In young and teenagers
 In men
 Diagnose and treatment

4. • Klinefelter syndrome is a genetic condition that results
when a boy is born with an extra copy of the X
chromosome.
• Instead of the typical XY chromosomes in men, they have
XXY, so this condition is sometimes called XXY syndrome.

5.  Klinefelter syndrome may adversely affect testicular growth, resulting
in smaller than normal testicles, which can lead to lower production
of testosterone.
 The syndrome may also cause reduced muscle mass, reduced body
and facial hair, and enlarged breast tissue.
 It is one of the commonest congenital chromosome disorders
resulting in hypogonadism and genetically-determined infertility.

7.  It was first identified in 1942. By the late 1950s, the cause of
Klinefelter syndrome was discovered.
 In 1942, Dr. Harry Klinefelter and his coworkers at the Massachusetts
General Hospital in Boston published a report about 9 men who had
enlarged breasts, sparse facial and body hair , small testes, and an
inability to produce sperm.
 By the late 1950s, researchers discovered that men with Klinefelters
syndrome.

8. Men with Klinefelter may have:
 An extra X chromosome in every cell, which is the most
common
 An extra X chromosome in only some cells, called mosaic
Klinefelter, in which you don’t have as many symptoms
 More than one extra X chromosome, which is very rare and
more severe

9.  Signs and symptoms of Klinefelter syndrome also vary by
age.
IN BABIES:
 Weak muscles
 Slow motor development — taking longer than average to
sit up, crawl and walk
 Delay in speaking
 Problems at birth, such as testicles that haven't descended
into the scrotum

10. • Taller than average stature
 Longer legs, shorter torso and broader hips compared with other boys
 After puberty, less muscle and less facial and body hair compared with other teens
 Small, firm testicles
 Small penis
 Enlarged breast tissue (gynecomastia)
 Weak bones
 Low energy levels
 Tendency to be shy and sensitive
 Difficulty expressing thoughts and feelings or socializing
 Problems with reading, writing, spelling or math
:

12.  Low sperm count or no sperm
 Small testicles and penis
 Low sex drive
 Taller than average height
 Weak bones
 Decreased facial and body hair
 Less muscular compared with other men
 Enlarged breast tissue
 Increased belly fat

13. Your doctor will likely do a thorough physical exam and ask
detailed questions about symptoms and health. This may
include examining the genital area and chest, performing tests
to check reflexes, and assessing development and functioning.
 The main tests used to diagnose Klinefelter syndrome are:
 HORMONE TESTING.
 CHROMOSOME ANALYSIS.

14.  If you or your son is diagnosed with Klinefelter syndrome,
your health care team may include a doctor who specializes in
diagnosing and treating disorders involving the body's glands
and hormones (endocrinologist), a speech therapist, a
pediatrician, a physical therapist, a genetic counselor, a
reproductive medicine or infertility specialist, and a counselor
or psychologist.
 Although there's no way to repair the sex chromosome
changes due to Klinefelter syndrome, treatments can help
minimize its effects.

15.  Treatment for Klinefelter syndrome is based on signs and
symptoms and may include:
 TESTOSTERONE REPLACEMENT THERAPY.
 BREAST TISSUE REMOVAL.
 EDUCATIONAL EVALUATION AND SUPPORT.
 FERTILITY TREATMENT.
 SPEECH AND PHYSICAL THERAPY.
 PSYCHOLOGICAL COUNSELING.

16.  1)The Klinefelter-Reifenstein-Albright syndrome. Archived 2017-08-
27 at the Wayback Machine on biomedsearch.com, retrieved 26
August 2017
 2)^ Jump up to:a b Jacobs PA, Strong JA (January 1959). "A case of
human intersexuality having a possible XXY sex-determining
mechanism". Nature. 183 (4657): 302–
3. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 1363
2697. S2CID 38349997.
 3)^ Jacobs PA (September 1982). "The William Allan Memorial Award
address: human population cytogenetics: the first twenty-five
years". American Journal of Human Genetics. 34 (5): 689–
98. PMC 1685430. PMID 6751075