Klinefelter's Syndrome

• Individuals with Klinefelter's Syndrome may have physical characteristics such as tall stature, small testes, and reduced facial and body hair.
• Klinefelter's Syndrome can also lead to hormonal imbalances, resulting in infertility and potential cognitive and behavioural challenges.
• Klinefelter's Syndrome is caused by the presence of an extra X chromosome (XXY) in males.
• Klinefelter's Syndrome is not inherited from the parents, but rather occurs as a result of a random genetic mutation.
• Individuals with Klinefelter's Syndrome may experience delayed or incomplete puberty, resulting in reduced muscle mass and strength.
• Individuals with Klinefelter's Syndrome may have difficulties with motor skills, such as coordination and balance.
• Klinefelter’s Syndrome was first reported by Harold Klinefelter in the USA in 1942.
• Klinefelter’s Syndrome is an example of an atypical sex chromosome pattern.
• Klinefelter’s Syndrome affects boys.
• Individuals who have Klinefelter’s Syndrome are biological males with the anatomical appearance of a male.
• Klinefelter’s Syndrome is a disorder where males have an extra X chromosome so their pattern is XXY.
• Klinefelter’s Syndrome is not an inherited condition, as it results from an error the occurs during meiosis.
• One of the effects of the additional X chromosome in Klinefelter’s Syndrome is reduced body hair, breast development and underdeveloped genitalia.
• Many boys with Klinefelter’s Syndrome have problems with coordination and general clumsiness.
• Klinefelter’s Syndrome can lead to increased female characteristics and reduced male characteristics such as a smaller penis and testicles.
• Boys with Klinefelter’s Syndrome may have trouble using language to express themselves, may be shy and have trouble fitting in.
• Males with Klinefelter’s Syndrome are likely to have small testes that produce lower levels of testosterone. This results in a more feminised body shape such as wider hips and more narrow shoulders.
• Infants with Klinefelter's Syndrome can be slightly developmentally delayed and have some problems such as poor language skills and lower reading ability.
• Mosaic Klinefelter’s Syndrome can affect about 1 in 10 people with Klinefelter’s Syndrome but often cause lesser symptoms.
• Simpson et al (2003) found that males with Klinefelter’s Syndrome responded well to treatment using male hormones.
• Researching Klinefelter’s Syndrome increases our understanding of the disorder, which means that better advice and treatments can be offered to patients.
• Studying people with abnormal chromosome patterns improves our understanding of the role of those chromosomes in normal development.
• By understanding the behaviour and gender development of males who have an extra X chromosome we gain a greater insight into the role the X chromosome plays on development.
• Herlihy et al (2011) studied 87 individuals in Australia with Klinefelter’s Syndrome and found those who were treated at a young age benefited significantly in terms of managing their syndrome.
• Increased awareness of atypical chromosome patterns have many useful real-world applications such as hormone therapy.
• Studying patients with Klinefelter’s Syndrome is socially sensitive as there could be negative implications for the individual. It may suggest that there is something 'wrong' with them.