What is Klinefelter syndrome?
Klinefelter syndrome (KS), likewise known as 47 XXY, or Klinefelter-Reifenstein-Albright syndrome or XXY Syndrome, is a common genetic condition that affects 1 in every 1000 live male births.
Klinefelter Syndrome is not an inherited disorder, and It is a disorder caused by a defect in chromosomes.
What causes Klinefelter syndrome?
In Klinefelter syndrome, males have an extra X chromosome making their whole chromosome number to be 47 XXY. The defect in Klinefelter Syndrome occurs as a random genetic error after conception. This error affects the physical and intellectual development of the child. There is no specific predisposing factor for having a child with Klinefelter Syndrome.
What are the symptoms of Klinefelter syndrome?
Here are signs and symptoms of Klinefelter Syndrome:
- Low sperm count or utterly absent of sperm (Oligospermia or Azoospermia)
- Small testicles
- Small penis
- Low sex drive (Less interest in sex)
- Taller than average height with longer legs, shorter torso, and wider hips
- Weak muscles (reduced muscle mass)
- Reduced body and facial hair (Less body hair)
- Gynecomastia (Enlarged breast tissue)
- Poor coordination
- Delayed speech
- The slow growth of motor skills such as crawling, walking, and sitting up takes a long time to develop
- Osteomalacia (weak bones)
- Having problems with certain subjects at school, such as writing or mathematics
- Difficulty expressing feelings and thoughts to others
- Delayed onset of puberty
- Belly fat
How is Klinefelter syndrome diagnosed?
- Genetic testing: karyotype determine the number of chromosomes and other abnormalities affecting the chromosomes
- Hormone analysis (testosterone)
- Examination of physical features such as body structure, testicles, penis, and reflexes.
How is Klinefelter Syndrom treated?
Sadly, there is no cure for Klinefelter Syndrome, like most genetic disorders. Symptoms are managed with several medical techniques to improve overall health, Such as:
- Testosterone replacement
- Surgical removal of enlarged breast
- Speech and language therapy
- Physical therapy
- Assisted reproductive technology: is several medical procedures that can be used to help the affected men father a child.
Complications of Klinefelter syndrome include:
- Increase the risk of breast cancer
A brief history of Klinefelter syndrome
- Klinefelter Syndrome was identified in the 1940s by an American endocrinologist named Harry Klinefelter, whom the disease is named after.
- The extra X chromosome was first identified in 1956.
- Mice are useful to test subjects for the study of Klinefelter Syndrome because mice can also have Klinefelter Syndrome.