Klinefelter Syndrome

Klinefelter Syndrome Notes

1. Presented By R.KrishnaMoorthy KLINEFELTER SYNDROME

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

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. History 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. Complications 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 C hildhood Undescended testicles Weak muscles Slow motor development Delay in speaking Taller than average height Longer legs and broader hips Symptoms

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 Symptoms

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

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. Diagnosis

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 . Treatment's

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. Treatment's

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 . Treatment's

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