Klinefelter syndrome

2. Klinefelter
Syndrome is a
genetic disorder
that affectsmales.
Its occurs when a
boy is born with
one or more extra
X-Chromosomes.

3. So Klinefelter Syndrome isa
trisomic disorder.
It occurs in about 1 outof 1000
males.
This condition is nottypically
inherited from oneparents.

4.  In 1942,Dr.Harry
Klinefelter, and his
coworkers found nine men
with small testes, aspermia,
elevated urinary
gonadotrophins and
gynecomastics. These
persons were later designated
as Klinefelter’ssyndromic.
Dr.Harry Klinefelter

5.  Bradbury(1956) found that
such person is chromatin
positive having 2X
chromosomes in its
Karyotype.
 Jacob and Strong (1956)
described the presence of 2X
chromosomes in addition toa
Y chromosome in its
Karyotype.
 Court Brown (1964)
described that, in morethan
¾ th cases, Karyotypeis
47/XXY.

6. Anxietyand
depression
Infertility
Weak bones
(osteoporosis)
Heart and blood
vessel disease
Breast cancer
Lung disease
Diabetes and
hypothyroidism
Lupus and
rheumatoid arthritis
Tooth problems

7. At Birth andChildhood
 Undescended testicles
 Weak muscles
 Slow motordevelopment
 Delay in speaking
 Taller than averageheight
 Longer legs and broaderhips

8. At Puberty
 Small testicles
(hypogonadism)
 Breast tissuedevelopment
(gynaecomastia)
 Low sperm count or no sperm
 Low sexdrive
 Taller than averageheight
 Weak bones
 Decreased facial and bodyhair
 Less muscular thannormal
 Increased belly fat
 Small penis

9. HormoneTesting
Blood or urine
samples can reveal
abnormal hormone levels
that are a sign of
Klinefeltersyndrome.

10. ChromosomeAnalysis
 Also called karyotype
analysis.
 This test is used to
confirm a diagnosisof
Klinefeltersyndrome.
 A blood sample is sentto
the lab to check the
shape and number of
chromosome.

11.  Testosterone
ReplacementTherapy
 It helps to stimulate changes
in the time ofpuberty.
 Changes such as developing a
deeper voice, growing facial
and body hair, and increasing
muscle mass and penis size.
 It will not result intesticle
enlargement or improve
infertility.

12.  Breast Tissue Removal
In males who develop
enlarged breasts, excess breast
tissuecan be removed bya plastic
surgeon, leaving a more normal-
looking chest.
 Speech and Physical
Therapy
These treatments can help
boys with Klinefelter syndrome
overcome problems with speech,
language and muscleweakness.

13.  Fertility Treatment
Intracytoplasmicsperm
injection (ICSI)-minimal
sperm productionpatient.
During ICSI, sperm is
removed from the testicle
with a biopsy needleand
injected directly into the
egg.

14.  Psychological counseling
A family therapist, counselor orpsychologist
can help work through theemotional issues