What is Klinefelter Syndrome?
Males with Klinefelter syndrome carry two or more X. Affected individuals are often tall and produce relatively small amounts of testosterone, and can result to hormone imbalance; which affected males who have incompletely developed secondary male sex characteristics.
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Normal chromosomes and abnormal chromosome with Klinefelter syndrome |
The effects that may vary greatly and may include are:
- Infertility: it may be diagnosed when a ‘normal’ male is seen because they have fertility problems
- Reduced testicle size- The testicles do not develop properly and are noticeable smaller from adolescence
- Incomplete puberty- Puberty is delayed and male hormone testosterone is not produced enough.
What are signs at birth?
It isn’t very common to be diagnosed at birth, because the baby is usually looking healthy and normal. However certain factors associated with Klinefelter syndrome may be apparent including: a small penis, un-descended testicles and hypospadias (urethra located on the underside of the penis instead of the tip)
What are signs at childhood?
Klinefelter syndrome can vary at childhood, from greatly and range from moderately to mild. However not many boys show signs of Klinefelter syndrome at childhood. But there are some, and there is early intervention providing the opportunity to overcome difficulties as well as for each boy to reach their individual potential.
Signs that can develop in childhood include:
- Late talking and walking
- Learning difficulties (concentration in class)
- Poor motor development and/or coordination
What are signs at puberty?The signs of Klinefelter syndrome are usually diagnosed at puberty, when the ‘expected’ physical changes occur. Some of the signs that can occur during puberty are:
- Lack of facial, pubic and underarm hair
- Poor muscle development
- Tiredness and fatigue
- Disproportionately long arms and legs compared to the length of the body
- Taller than average height
- Poor concentration, depression
- Sometimes, speech and learning difficulties. In some cases this can lead to behavioural problems.
What are possible complications?
Having Klinefelter syndrome can arise many complications and there is an increasing amount of risks of certain diseases and conditions linking with Klinefelter syndrome, they can include:
- Breast cancer
- Infertility
- Leukaemia
- Thyroid disease
