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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.

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12y ago
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13y ago

It affects the endocrine system, which results in short stature.

It affects the reproductive system, which results in people with Turners usually needing hormone replacement therapy to go through puberty. This also means that people with Turners need to go through IVF with a donor egg in order to become pregnant.

Problems with the cardiovascular system are common in people with Turners.

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14y ago

Summary of what is written below: Women and girls with Turner syndrome are shorter than normal. Some women have a broad chest and/or neck and sometimes there are extra skin folds on the neck. This neck webbing can be corrected, for cosmetic reasons, with surgery. Small nails, low set ears and a low hairline may also be noticeable. In many cases only a few of the above may be present.

Most girls with Turner syndrome only have a few of the characteristics associated with the condition, but short stature and infertility are nearly always present:

Short stature

Non-functioning ovaries leading to absence of pubertal development and infertility

Extra folds of skill on the neck

Puffy hands and feet

Coarctation or narrowing of the aorta

Feeding problems in early childhood

Broad chest with widely spaced nipples

Small spoon shaped nails

A low hairline

Low set ears

Increased carrying angle of the arms

Hearing problems

High blood pressure

Thyroid problems

Diabetes

Learning difficulties (not mental retardation)

Behaviour problems

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13y ago

Turner Syndrome or (TS) is a disorder that effects only females. Most females are born with 2 X chromosomes, howver in a girl with turner syndrome, there is only 1 X chromosome. Problems that occur within turner syndrome are short stature, unable to have children (infertile). They may also have kidney problems, heart problems, hearing and learning impairments along with high blood pressure (hypertension) and thyroid problems. Now this may seem like a lot of issues, but keep in mind that not all girls diagnosed with TS will each have the same reactions. Some may have mild effects and others more extreme.

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