Mosaic Turner Syndrome is similar to Turner Syndrome in that it involves the abnormality of chromosomes in girls and accounts for 16 percent of all Turner diagnoses. In a healthy female, two X chromosomes are present in each cell. In Turner Syndrome, only one X is present or there may be two with one being malformed or missing part of its structure. This results in a failure to grow physically and develop sexually. This condition also contributes to several visible defects including a webbed neck, a low hair line at the nape, and an excessive amount of moles among others.
Turner Syndrome And Mosaic Turner Syndrome
In Mosaic Turner Syndrome, some cells may be similar to those found in Turner Syndrome, but others are found to be normal. This decreases the symptoms associated with the condition. Girls with Mosaic Turner Syndrome normally will reach normal height without growth hormone and will not have many of the physical features typically associated with Turner’s Syndrome. Even though the symptoms are not as severe, girls with this condition will normally fail to develop sexually without hormone replacement therapy and most are infertile.
Another variation of Mosaic Turner Syndrome is the involvement of male chromosomes. Again, a female normally has two X chromosomes. A male has two XY chromosomes for each cell. In some cases of Mosaic Turner Syndrome, one of the female chromosomes is switched with a male chromosome resulting in intersex or hermaphrodite characteristics.
In some cases this malformation is evident at birth. A child may be born with visible genitalia of both sexes or have genitalia that does not fit the normal description of what male or female sex organs should look like. For example: A child might have an overly large clitoris or extremely small penis and be lacking the other characteristics associated with each, namely a vagina or scrotum.
While many cases of intersex are evident at birth, some are not. It is not uncommon for this condition to go unnoticed until puberty. It may even remain undetected until adulthood and only be discovered when a couple finds that they are infertile. There have even been cases of intersex remaining undetected until an autopsy is performed.
Mosaic Turner Syndrome Treatment
Treatment options for Mosaic Turner Syndrome are similar to those of Turner Syndrome. Hormone replacement therapy is needed during puberty to aid in the sexual development of the female. In cases of intersex, surgery may be performed to shape the genitalia into what society views as being normal male or female organs.
In almost all cases of Mosaic Turner Syndrome, the individual is infertile. Fertilization techniques such as in vitro fertilization and sperm donation (as would be the case for an intersex individual that was assigned a male gender) are ways that people with this condition can have children. Since persons with Mosaic Turner Syndrome are almost always infertile, the chance of passing the condition on to offspring is virtually non existent.
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