Klinefelter Syndrome Notes

1. Presented By
R.KrishnaMoorthy

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

3. So Klinefelter Syndrome is a
trisomic disorder.
It occurs in about 1 out of 1000
males.
This condition is not typically
inherited from one parents.

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’s syndromic.
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 to a
Y chromosome in its
Karyotype.
 Court Brown (1964)
described that, in more than
¾ th cases, Karyotype is
47/XXY.

6. Cause of Klinefelter Syndrome

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

8. At Birth and Childhood
 Undescended testicles
 Weak muscles
 Slow motor development
 Delay in speaking
 Taller than average height
 Longer legs and broader hips

9. At Puberty
 Small testicles
(hypogonadism)
 Breast tissue development
(gynaecomastia)
 Low sperm count or no sperm
 Low sex drive
 Taller than average height
 Weak bones
 Decreased facial and body hair
 Less muscular than normal
 Increased belly fat
 Small penis

10. Hormone Testing
Blood or urine
samples can reveal
abnormal hormone levels
that are a sign of
Klinefelter syndrome.

11. Chromosome Analysis
 Also called karyotype
analysis.
 This test is used to
confirm a diagnosis of
Klinefelter syndrome.
 A blood sample is sent to
the lab to check the
shape and number of
chromosome.

12.  Testosterone
Replacement Therapy
 It helps to stimulate changes
in the time of puberty.
 Changes such as developing a
deeper voice, growing facial
and body hair, and increasing
muscle mass and penis size.
 It will not result in testicle
enlargement or improve
infertility.

13.  Breast Tissue Removal
In males who develop
enlarged breasts, excess breast
tissue can be removed by a 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 muscle weakness.

14.  Fertility Treatment
Intracytoplasmic sperm
injection (ICSI)-minimal
sperm production patient.
During ICSI, sperm is
removed from the testicle
with a biopsy needle and
injected directly into the
egg.

15.  Psychological counseling
A family therapist, counselor or psychologist
can help work through the emotional issues