Klinefelter syndrome

by hafiz m Waseem university of education Lahore

1. KLINEFELTER SYNDROME HAFIZ M WASEEM UNIVERSITY OF EDUCATION LAHORE

2. Contents  Introduction History Causes Symptoms In babies In young and teenagers In men Diagnose and treatment

3. Introduction 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.

4. 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.

5. 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. HISTORY

6. CAUSES 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

7. SYMPTOMS 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

8. IN BOYS AND TEENAGERS 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 :

9. IN MEN:  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

10. 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 .  DIAGNOSIS

11. 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. TREATMENT:

12. 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. 

13. REFERENCES : 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 13632697. 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