A Family Doctor's Tale - KLINEFELTER'S SYNDROME

DOC MY CHILD HAVE KLINEFELTER'S SYNDROME


Klinefelter's Syndrome is an inherited disorder of the sex chromosone in which an extra X chromosone is present(XXY).

It is named after Dr. Henry Klinefelter.

It occurs in males 1:500 and is associated with hypogonads and infertility.

The Cause of Klinefelter's Syndrome are:



It is an inherited disease caused by an extra X sex chromosone(XXY).

Variations include XXXY and mosaicism(XY/XXY)

The testis formation is affected result in hypogonadism and low testosterone production.

The symptoms of Klinefelter's Syndrome are:
Symptoms:
A.Physical Development:


As babies, they have weak muscles and reduced strength resulting in later development in walking and crawling.

After 4 years of age, they are usually:

1.taller with long legs

2.less muscular body

3.testes are small,insensitive and firmer than usual

4.Penis is small

5.gynecomastia in 50 per cent

6.less facial and body hair

7.Sexual desire and ability to have erections impaired

8.infertility

B.Language Development:

About 25- 75 per cent of the boys has some language problem:

1.difficulty in speech

2.difficulty in expression

3.difficulty in reading

4.difficulty in comprehension

C.Social Development:

1.quiet and unassuming

2.helpful

3.obedient

4.less assertive

5.less self confidence

In spite of these, they have very often normal social relationships

Diagnosis of Klinefelter's Syndrome is often based on
1. medical examination and appearance of the boy


2. buccal smear for cells to test for chromosones

3.karyotyping

4.blood test for testosterone (low), follicle stimulating hormone(raised), luteinizing hormones (raised or normal)

The complications of Klinefelter's Syndrome are:

1. infertility

2. erectile dysfunction

3.autoimmune disorders,

4.breast cancer,

5.vein diseases,

6.osteoporosis

The treatment of Klinefelter's Syndrome is:

There is no way the chromosomes can be changed however there are treatments to relieve the symptoms and improve the lives of these males.

A.Medical treatments:
1.Male hormone replacement treatment can increase the testosterone hormones to normal level for the males starting from puberty.

There may be improvement in muscle mass and more facial and body hairs.


2.mastectomy may be needed for obvious gynecomastia

3.therapeutic support from:

a.physical

b.psychological

c.speech

d.occupational

e.behavioral therapists

C.Educational treatments:

1.Special services by special needs teachers to build up confidence in the child

2.Making tasks simpler by breaking up big tasks into smaller simpler tasks


The prognosis of Klinefelter's Syndrome is:
1.infertility may occur even with male hormone treatment.

2.However there may be improved self confidence and more muscular body.

Prevention of Klinefelter's Syndrome :

Genetic counseling and testing for Klinefelter's Syndrome