Klinefelter syndrome is a common genetic condition in which a male is born with an extra X chromosome.
About 1 in 600 males have Klinefelter syndrome, but around 70-80% of those with the syndrome do not know that they have it.
People have 46 chromosomes, two of which are sex chromosomes that tell what gender a person is. There are two X chromosomes in a woman (XX) while males have an X and Y chromosomes (XY). In Klinefelter syndrome, a man can have any of the following:
Symptoms of Klinefelter syndrome present differently according to the level of development of the person.
In babies and toddlers, the disease can present as delayed learning which can be observed as sitting up, crawling, walking, and talking later than usual, as well as being quieter and less active.
In childhood, symptoms include shyness and low self-esteem, trouble reading, writing, spelling, and paying attention. Mild dyslexia or dyspraxia, low energy, and trouble making friends or expressing feelings can also be observed.
In adolescents, the usual signs are abnormal physical development in terms of height (with long arms and legs), hip width, muscle tone, rate of growth, hair growth (especially on the face and body) and sexual characteristics (such as tiny penises and testicles, or enlarged breast).
Apart from the aforementioned physical traits, adult acromegaly is characterized by an inability to conceive children (infertility) and a lack of sex drive.
Klinefelter syndrome is usually diagnosed through prenatal screening. Doctors can order a blood test for karyotyping wherein they look at the patient’s chromosomes to see whether the extra X chromosome is present. This can be done on kids, adults, and even babies before they are born.
Klinefelter syndrome cannot be treated, but some of the challenges that come with it can be managed if needed. Some supportive treatment include:
Klinefelter syndrome, a hereditary disorder with no known cure, is unfortunately irreversible. It is a random mistake in the DNA that happens before birth. This is not an inherited disease, and there is nothing a parent can do to keep their child from getting Klinefelter syndrome.
National Health Services (2022). Klinefelter syndrome. Retrieved December 9, 2022, from https://www.nhs.uk/conditions/klinefelters-syndrome/#:~:text=Klinefelter%20syndrome%20(sometimes%20called%20Klinefelter's,genetic%20sex%20of%20a%20baby.
Mayo Clinic (2022). Klinefelter syndrome. Retrieved December 9, 2022, from https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949
Cleveland Clinic (2022). Klinefelter syndrome. Retrieved December 9, 2022, from https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome