In people without Turner syndrome, they have two sex chromosomes. For males, that would be one X chromosome and one Y chromosome. For females, they would have two X chromosomes. For females who have Turner syndrome, they have one normal X chromosome and the other is either missing or structurally altered. The chromosomal abnormality occurs as a random event during the formation of reproductive cells in the affected person’s parent. When a pair of chromosomes fails to separate during the formation of sperm or egg, this is called nondisjunction. Nondisjunction is typically what causes Turner Syndrome. In about twenty percent of Turner syndrome cases, both X chromosomes are present but one has formed abnormally. In about thirty percent of females with this disorder, only some of their cells are missing the X chromosome. This is called mosaicism. Females who present with mosaicism have fewer symptoms because not all of the cells have missing or abnormal genetic …show more content…
The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement.
Another symptom of Turner Syndrome are Non-functioning ovaries. Normally a females’ ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. However, this does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age they typically should. Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal. Additional symptoms of Turner syndrome include the following:
• An especially wide neck (webbed neck) and a low or indistinct hairline.
• A broad chest and widely spaced nipples.
• Arms that turn out slightly at the elbow.
• A heart murmur, sometimes associated with narrowing of the aorta (blood