What is the difference between Mosaic and non-mosaic Klinefelter syndrome?
Second, as we have found, men with mosaic KS appear to be more androgenized than their non-mosaic counterparts. They have a higher rate of sperm in the ejaculate, lower ADAM scores, and larger testicular volumes, and as such some of these men may not be tested for KS and thus not iden- tified.
What causes mosaic Klinefelter syndrome?
Klinefelter syndrome can be caused by: One extra copy of the X chromosome in each cell (XXY), the most common cause. An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms. More than one extra copy of the X chromosome, which is rare and results in a severe form.
How is KS mosaicism formed?
The most common form of mosaicism results from post-fertilization nondisjunction of the XXY zygote in two cell lines 47XXY/46XY in 15-20 % of KS.
What is the meaning of mosaicism?
Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including: Blood cells. Egg and sperm cells. Skin cells.
What is the lifespan of a person with Klinefelter syndrome?
According to research, Klinefelter syndrome can shorten your life expectancy up to two years. However, you can still live a long, full life with this condition.
Are XXY males sterile?
Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. But, sperm are found in more than 50% of men with KS.
Is Klinefelter syndrome considered a disability?
Social Security Benefits If you or your dependent(s) are diagnosed with Klinefelter Syndrome and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
Who is a mosaic person?
Mosaicism is when a person has 2 or more genetically different sets of cells in their body. Chromosomes are stick-shaped structures in the middle of each cell in the body. Each cell has 46 chromosomes grouped in 23 pairs. A person with mosaicism may have some cells in their body with 46 chromosomes.
Who is most likely to get Klinefelter syndrome?
Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. This is written as XXY. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.
What are the side effects of Klinefelter syndrome?
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary,…
What are some treatments for Klinefelter syndrome?
Treatments for Klinefelter syndrome. There’s no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Possible treatments include: testosterone replacement therapy. speech and language therapy during childhood to help with speech development.
What are the symptoms of Klinefelter’s syndrome?
Infertility is the most common symptom of Klinefelter syndrome. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts (gynecomastia) Infertility. Sexual problems. Less than normal amount of pubic, armpit, and facial hair.
What are the clinical features of Klinefelter’s syndrome?