Klinefelter syndrome 47xxy

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Presentation transcript:

Klinefelter syndrome 47xxy Dr.Rana S.Jawad

is a genetic disorder that affects males is a genetic disorder that affects males. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have some physical traits unusual for males

How is this disorder inherited? A pair of sex cells fail to separate during the formation of an egg or sperm Embryo ends up with three copies of chromosomes (XXY) A recessive trait

How is Klinefelter syndrome diagnosed? Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the boy's testicles fail to grow normally and may start to notice other symptoms.

physical symptoms of KS low testosterone levels in the body. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available. During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. For example, on average, baby boys with KS do not start walking until age 18 months.

After age 5 years, when compared to typically developing boys, boys with KS may be slightly: Taller Fatter around the belly Clumsier Slower in developing motor skills, coordination, speed, and muscle strength

Puberty for boys with KS usually starts normally Puberty for boys with KS usually starts normally. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. In addition to being tall, KS boys may have: Smaller testes and penis Breast growth (about one-third of teens with KS have breast growth) Less facial and body hair Reduced muscle tone Narrower shoulders and wider hips Weaker bones, greater risk for bone fractures Decreased sexual interest Lower energy Reduced sperm production

An adult male with KS may have these features: Infertility: Nearly all men with KS are unable to father a biologically-related child without help from a fertility specialist. Small testes, with the possibility of testes shrinking slightly after the teen years Lower testosterone levels, which lead to less muscle, hair, and sexual interest and function Breasts or breast growth (called gyne comastia)