Turner's syndrome symptoms?

Turner syndrome (sometimes referred to Turners Syndrome)


Turner syndrome -- There are two variations of the Turner's syndrome which effect females. This syndrome is caused by an abnormalities, involving the absence of all or part of one (preset with an XO karyotype), of the two normal X chromosomes. This condition entails some common developmental features which make it recognizable, as well as genetic disorders which affect a female's sexual development. Some female's with Turner syndrome (TS) may have only a few features or deformations; these can include rounded spinal thorax, webbed neck and/or a low hairline on the neck, prominent ears, lymphangiectatic edema of hands and/or the feet, cubitus valgus of the upper arm, elbow, forearm and/or hand, among other deformities; and they are shorter than average in height. This disorder causes multiple reproductive developmental issues and disorders which prevent young women from sexually maturing, causing primary amenorrhea in young women, which can leave them infertile. It can also cause congenital heart disease, causing congenital obstructive lesions of the left side of the heart in some individuals. Turner syndrome is a relatively uncommon sex-chromosome disorder which affects approximately 1 out of 2,500/3,000 births.


This disorder is know by several names: Turner syndrome (Gonadal Dysgenesis) and Turner syndrome (Bonnevie-Ullrich), and the two following forms of Turner syndrome: XO syndrome (monosomy XO), females have only one X-chromosome (45 X, chromosome = karyotyped); and XX syndrome were females missing or have an incomplete X chromosome, they may have fewer or less noticeable symptoms because they still have some normal (XX) cells, (45+X, chromosome = karyotyped), the + indicating up to 90, with the additional X chromosome.


Masculinized, Turner's syndrome, XY-XO mosaicism (cells with a different genetic makeup): This is a form which externally those with this form appear normal males, but they have both XY cells which are male cells, and XO cells which are Turner's syndrome female cells.


This last one is not listed under Turner's syndrome or as a variation of Turner's, yet other than the physical deformities of Turner syndrome, it is a sexual deformity in that the sex glands do not develop normally.


XY Gonadal Dysgenesis (Swyer syndrome) Individuals with this chromosome type are usually raised as a female and they identify as female. A person with hypogonadism is born without functional gonads, which is characterized by the failure in development of the sex glands, testicles or ovaries, (46, XY chromosome = karyotyped). It is the 46th chromosome cell that causes the disorder to be termed as Swyer Syndrome.


These two disorders are associated together with many organizations which offer support groups and counseling, which offers Androgen Insensitivity Syndrome Support, www.aissg.org/21_overview.htm, groups which assists individuals with either Turner's syndrome or Swyer's syndrome. And organizations which offer more information on these disorders, such as the Society for Endocrinology, www.endocrinology.org › Links; and the Androgen Insensitivity Syndrome (AIS)/Intersex Society, www.isna.org/faq/conditions/ais.