Genetics
Turner syndrome is a chromosomal disorder affecting females in which all or part of one of the X chromosomes is absent. The loss of this sex chromosome is due to a nondisjunction event during meiosis.
Incidence
Approximately 98% of all fetuses with Turner syndrome result in miscarriage. Turner syndrome accounts for about 10% of the total number of spontaneous abortions in the United States. The incidence of Turner syndrome in live female births is believed to be 1 in 2500.
Symptoms/Characteristics
- 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
- Webbing of the neck (webbed neck)
- Coarctation of the aorta
- Poor breast development
- Horseshoe kidney
- Visual impairments sclera, cornea, Glaucoma, etc.
- Ear infections and hearing loss.
- Mean I.Q. of 90
Facial Features
- Narrow Maxilla (palate)
- Relatively small Mandible
- Inner canthal folds
Clinical Management
As a chromosomal condition, there is no “cure” for Turner syndrome. However, much can be done to minimize the symptoms such as growth hormone and estrogen replacement therapy. Women wishing to get pregnant might consider using a donor egg.