Turner Syndrome

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"[1]:550) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome) is most common. It is a chromosomal disorder in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which 2 are sex chromosomes). Typical females have 2 X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2] or 'Turner mosaicism'.

Occurring in 1 out of every 2500 girls, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.[3] Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many other autoimmune diseases.[4] Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.[5]

Common symptoms of Turner syndrome include:

* Short stature
* Lymphedema (swelling) of the hands and feet
* Broad chest (shield chest) and widely-spaced nipples
* Low hairline
* Low-set ears
* Reproductive sterility
* Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
* Amenorrhea, or the absence of a menstrual period
* Increased weight, obesity
* Shield shaped thorax of heart
* Shortened metacarpal IV (of hand)
* Small fingernails
* Characteristic facial features
* Webbed neck from cystic hygroma in infancy
* Coarctation of the aorta
* Poor breast development
* Horseshoe kidney
* Visual impairments sclera, cornea, glaucoma, etc.
* Ear infections and hearing loss