Klinefelter syndrome- A Chromosomal Change | ScienceMonk

The Klinefelter syndrome is primarily a chromosomal condition in boys or men that affects the physical and intellectual development of the individual.

The Dual Perception-A Different Creation Through Chromosomal Change

Why Dual Perception?

For a cause that for the world where belong only two sets of people, A male, and A female, so? So for another cause that there exists another, I won’t say category but a creation, unique and different from what we are.

Klinefelter syndrome

Yes, I’m talking about the EUNUCHS. Scientifically these people are to be considered with a condition called as the ‘KLINEFELTER’S SYNDROME’ also called the ‘XXY SYNDROME.’

What is this condition? The Klinefelter syndrome is primarily a chromosomal condition in boys or men that affects the physical and intellectual development of the individual.

Boys and men with this syndrome usually have small testis that produces a reduced amount of testosterone. Testosterone directs male sexual development before birth and at puberty. Shortage of testosterone causes a condition called GYNECOMASTIA (breast enlargement), reduced facial and body hair.

Affected males are infertile without assisted reproductive technologies, Although they have better receptive language skills (ability to understand speech). They have differences in their genitalia including undescended testes, the opening of the urethra on the underside of penis (hypospadias), unusually small penis (micropenis).

Children with Klinefelter’s syndrome have weak muscle tone and problems with coordination that delay the development of motor skills such as sitting, walking, standing. Affected individuals have anxiety, impaired social skills, and limited problem-solving skills (executive functioning).

Klinefelter syndrome

Traits

Affected individuals are Tall than their peers usually slender with a harsh voice.

Risks

They have an increased risk for type 2 diabetes compared to the unaffected individuals and breast cancer(only if gynecomastia persists

Inheritance

Klinefelter’s syndrome is a chromosomal disorder. And not inherited which occurs due to an addition of X chromosome. Where the usual chromosome pattern of a normal individual is XX for a female and XY for a male the individuals with Klinefelter’s syndrome possess “XXY chromosomal pattern.”

During cell division, an error called NON-DISJUNCTION( failure of one or more pairs of homologous chromosomes to separate generally during nuclear division) prevents X chromosomes from being distributed normally among reproductive cells as they form. The usual chromosome number in a normal individual is (XX/46) (XY/46) while in Klinefelter syndrome possesses (XXY/47).

The causes of Klinefelter syndrome

  • Klinefelter syndrome is caused by an additional X chromosome. The extra genetic information either be carried in every cell in the body, or it may only affect some cells (which is called the mosaic Klinefelter’s syndrome).
  • Klinefelter syndrome isn’t directly inherited – the additional X chromosome occurs as a result of either the mother’s egg or the father’s sperm having the extra X chromosome (an equal chance of this happening in either), so after conception, the chromosome pattern is XXY rather than XY.

Testing for Klinefelter syndrome–

  • In Klinefelter syndrome, most of the cases depend upon the fertility tests this is usually done in many cases. The physical examination may suggest sending off a blood sample to check the reproductive hormonal levels of the individual. The blood sample can be tested for the presence of an extra X chromosome.

Treatments For Klinefelter Syndrome-

There is no such cure for Klinefelter syndrome. However, some problems associated with it can be treated if necessary. The treatments are possible. Include the following-

  • Testosterone Replacement Therapy (TRT).
  • Physiotherapy to help build muscle and increase strength.
  • Occupational therapy to help with any coordination problems associated with Dyspraxia.
  • Fertility Treatment options –which include the artificial insemination using the donor’s sperm or Intra-cytoplasmic sperm injection (where the sperm removed during a small operation is being used to fertilize the egg).
  • Breast Reduction surgery to remove excess breast tissue.
  • Speech and language therapy during childhood to help with speech development.
  • Social well being by giving them guidance on how to behave publicly.
  • Educational and behavioral support in school to help with any learning difficulties and behavioral problems.
  • They should be sent to schools and colleges usually and should also be allowed to work daily like normal.
  • Psychological support for any mental issues or stress issues due to social pressure or peer pressure.

The Testosterone Replacement Therapy

  • Testosterone replacement therapy involves taking medication containing testosterone.
  • It can be given in the forms of gels or tablets in teenagers or given as gels or injections in men.
  • Testosterone replacement therapy can be considered once puberty begins for the development of a deep voice, facial and body hair, an increase in muscle mass, a reduction in body fat, and improvement in energy.
  • For children, it is a must for the peer to see to a pediatric endocrinologist.
  • Long term treatment for Klinefelter syndrome during adulthood may help with several other problems associated with the condition the problems include osteoporosis, low mood, reduced sex drive, small, and low energy levels- although these cannot reverse back infertility.

Occupational therapy-

Occupational therapy can help with practical tasks if one is

  • Physically disabled.
  • Recovering from an illness or operation.
  • Have learning disabilities.
  • Have mental health problems.
  • Are turning old.

Treatment for infertility

The treatment for infertility includes three main categories-

  • Medicines.
  • Surgical procedures.
  • Assisted conception — including Intrauterine insemination (IUI) and in vitro fertilization (IVF).
  • Medicines include- Clomifene– encourages the monthly release on an egg in women (ovulation) who don’t ovulate regularly or don’t ovulate at all. Tamoxifen – is an alternative to clomifene for women with ovulation problems. Metformin – particularly for women suffering from polycystic ovary syndrome.
  • Surgical procedures- The surgical procedures include Fallopian tube surgery – it is done if your fallopian tubes have become blocked or scarred and need a repair. The success of this surgery highly depends upon how much is the fallopian tube damaged and to what depth and extent.

Read More- Breast Cancer Awareness | International Women’s Day

Going Private For The Infertility Treatment-

One can always opt for a private treatment but it is however expensive, and there is no such guarantee of success.

  • You can find which clinic is available.
  • Which treatments are offered?
  • The success rate of each treatment.
  • The length of waiting lists.
  • The costs.

However, one can plan the treatment then according to the schedule cost and as time permits.

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