Klinefelter syndrome is a genetic anomaly where a boy is born with XXY chromosome instead of regular XY chromosome. Typically, a male carries XY chromosomes and a woman carries XX chromosomes. When these two combine, the resultant may be an XX or an XY that defines whether the offspring is a female or a male respectively. A person may not know about this condition until he has problem when trying to have a child. Klinefelter syndrome doesn’t have a cure but it is a treatable condition.
Klinefelter syndrome – causes
It is noted that women who get pregnant at older age tend to give birth to boys with XXY chromosomes. However, this is not the case always but getting pregnant at an older age carries a risk of the child being born with Klinefelter syndrome.
The additional X chromosome in the boy can be due to an additional X chromosome either in the egg or the sperm while the fertilization is taking place. Different types of Klinefelter syndrome exists such as:
- An extra X chromosome in every cell, which is the most common form of Klinefelter syndrome.
- An extra X chromosome only in some cells. This condition is called “mosaic” Klinefelter. In such cases, impregnating a woman partner may not become an issue.
- More than one additional X chromosome. Though this is very rare but this is a severe form of Klinefelter syndrome.
What are the symptoms of Klinefelter syndrome?
As said, symptoms of Klinefelter syndrome don’t show up when the person is young, they usually show up when trying to have a child. Symptoms of Klinefelter syndrome change with age.
Symptoms of Klinefelter syndrome in babies:
- Baby will be more quiet than normal
- Undescended testicles
- Weaker muscles
- Such babies will learn to sit up, crawl and talk
Symptoms of Klinefelter syndrome in children:
- More of an introvert nature, distancing themselves from making friends
- Low energy levels
- Difficulty learning to read, write and do math
- Being shy with low self esteem
Symptoms of Klinefelter syndrome in teenagers:
- Less muscle tone and growth.
- Less facial and body hair, masculine features set in late than usual
- Longer arms, legs and shorter torso than normal male
- Delayed puberty or never attain puberty at all
- Small penis and smaller testicles
- Some may be taller than usual.
Symptoms of Klinefelter syndrome in adults:
- Inability to impregnate his female partner (infertility)
- Low libido or sex drive
- Low testosterone levels
- Erectile Dysfunction
Diagnosis of Klinefelter Syndrome
Diagnosis of Klinefelter syndrome starts with a series of questions, a physical examination of the body, penis and testicles. A couple of tests may be required namely:
- Chromosome analysis / Karyotype analysis to look at the chromosomes
- Hormone tests – to test levels of different hormones (including testosterone) in blood or urine.
Treatment of Klinefelter syndrome
- Testosterone replacement therapy. When low amount of testosterone is detected in your body, you will be prescribed with testosterone replacement therapy. Once the therapy starts, you can see the masculine features developing / changing in the body such as increase in muscle growth, having erections, growth of body hair and increase in size of testicles etc.
- Infertility issues may be treated depending on the problem. If you are not having erections, appropriate medicines will be provided. If you are unable to impregnate your female partner, alternative therapies such as IVF, ICSI etc may be an option.
- Mastectomy – reduction of breast size if you think you need to cut down the breast size
- Speech therapy for children
- Counseling for introvert children and behavioural therapy
What happens to a man with low testosterone levels?
Low levels of testosterone in a man can lead to:
- Autoimmune problems
- Development/growth of cancer cells in different parts of the body including breast, bone marrow, lymph nodes etc.
- Heart diseases and other vascular problems
- Lung problems
- Problems with mental health leading to anxiety and depression
- Weakness in bones called osteoporosis