Turner Syndrome

Turner Syndrome (TS), Monosomy X, 45,X or 45,X0 is a CTF intersex variation affecting approximately one out of every 2,500 individuals assigned female at birth. It is a chromosomal variation where one has only a single X chromosome, rather then XX or XY.

Symptoms can include short height, slowed growth, a shield chest, a web neck, a short neck, low hairline at the back of the neck, epicanthal folds, eyelids turned downwards, keyloid scars, nail dysplasia, lymphedema, a short fourth toe, a short fourth finger, a cubitus valgus elbow alignment, and a valgus knee alignment. Heart defects, kidney problems, and autoimmune disorders also are not uncommon in those with Turner syndrome. The symptoms above may classify one with this variation as physically disabled in some cases.

In many cases, those with Turner syndrome do not go through puberty or have delayed puberty. They may also experience an early end to puberty or menstrual cycles. Those with mild symptoms may not be diagnosed until they are a teenager or young adult.

In some cases ovaries fail to develop properly. Infertility is common among this variation, as only 2-5% with TS are fertile. Those that can get pregnant are inherently high risk.

History
The history of Turner syndrome began in 1938, when Henry Turner described seven patients between the ages of 15 - 23, who were referred to him for dwarfism and lack of sexual development. He treated them with pituitary extracts, but it was ineffective.

Since then, many studies have evaluated Turner syndrome in greater detail and added to our knowledge of the syndrome. An international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome, to update the comprehensive recommendations on the diagnosis of Turner syndrome that were originally published in 1994.

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