What does a Klinefelter syndrome mean?
Klinefelter syndrome also called the XXY condition is a genetic condition where the male has an additional one or more X chromosomes. Normally, males have single X and Y chromosome. In case of a supplementary X chromosome, the male may inhibit unusual physical traits that are distinct from other males. Klinefelter syndrome was named after Dr. Henry Klinefelter, who first discovered a group of symptoms present in men with extra X chromosome. Although all males have an extra X chromosome but not all the males have those symptoms.
Klinefelter syndrome occurs in around 1 in every 660 males and is a condition that requires immediate treatment.
What are the common causes?
The prime cause behind the occurrence of Klinefelter syndrome is unbalanced splitting of sperms. However, it is possible in cases of even division of sperms as well. Luckily, despite of Klinefelter syndrome being a genetic issue, it does not get forwarded to future offspring. This means that a couple with Klinefelter syndrome has less chances of having a child with this disorder.
A woman with more than 35 years of age has a slightly higher risk of having a son with Klinefelter syndrome.
What are the possible symptoms?
- Sparse face and body hair following puberty
- A taller and less muscular body than males of the same age
- Broader hips and longer legs
- Larger breasts
- Weaker bones
- Lower energy level
- Smaller penis and testicles
- Delay in puberty
- Less facial and body hair following puberty
How can Klinefelter syndrome be tested?
Klinefelter syndrome cannot be diagnosed until the stage of puberty arrives. At this time, the boy’s testicles are unable to grow normally and the symptoms become evident.
If you want to examine whether your son has Klinefelter syndrome, your doctor will inquire about your son’s health history, conduct a physical test and suggest undergoing karyotype – a chromosome test.
In context of adult males, karyotype in conjunction with a couple of laboratory tests like sperm analysis is advisable.
How can it be effectively cured?
Unfortunately, there is no proper cure for this condition but we can get some relief from its symptoms through the following methods:
- Testosterone replacement therapy (TRT) – to aid in development of a deep voice, facial and body hair and increase muscle weight
- Speech and language therapy – to promote speech development
- Educational and behavioral support – to overcome learning difficulties or behavioral issues
- Occupational therapy – to treat co-ordination problems related to dyspraxia
- Physiotherapy – to build muscles and boost strength
- Psychological support – to improve mental health
- Fertility treatment – Artificial insemination through donor sperm or intra-cytoplasmic sperm injection (ICSI)
- Breast reduction surgery – to rule out unnecessary breast tissues
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At IFC, couples with Klinefelter syndrome are suggested a FNAC test if the patient wishes to use his own sperm. After FNAC, if there are possibilities of achieving the sperm of the male then once the sperm is retrieved, the patient will undergo an ICSI treatment. However, if the FNAC test fails, then artificial insemination using a donor sperm is performed.
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