Thursday, May 15, 2014
Definition
Turner syndrome or Ullrich-Turner syndrome is a chromosomal inability where one or all parts of a sex chromosome are absent. It is also called Gonadal dysgenesis. This abnormality is a genetic disorder that affects a girl’s development.
Frequency
- Affects about 1 in every 2500 live-born girls worldwide
- Turner syndrome only occur in females
- Turner syndrome is present at conception or following the first cell division and remains throughout life
Risk Factors
- Genetic predisposition
- Females
Pathophysiology
Normally, females have two X chromosomes – XX. In Turnersyndrome, one those X chromosome either is absent or has missing components or has an abnormality. The effects of the condition vary widely among girls with Turner syndrome. It all depends on how many of the body’s cells are affected by the changes to the X chromosome.
Signs and Symptoms
Signs and Symptoms
- Short stature. Girls with Turner syndrome who aren’t treated for short stature reach an average height of about 4 feet 7 inches (1.4 meters).
- Lymphedema (swelling) of the hands and feet (edema or extra fluid in the hands and feet)
- Broad chest and widely spaced nipples
- Low hairline at the back of the neck
- Low-set ears. Differently shaped ears that are set lower on the sides of the head than usual
- Reproductive sterility
- Underdeveloped ovaries gonadal streak. Turner syndromeprevents the ovaries from developing properly, which affects a girl’s sexual development and the ability to have children.
- Amenorrhea or the absence of menstrual period. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with Turnersyndrome will not go through all of the changes associated with puberty unless they get treatment for the condition.
- Obesity and increased weight
- Shield shaped thorax
- Shortened metacarpal
- Small fingernails
- Webbed neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
- Poor breast development
- Horseshoe kidney
- Visual impairments of sclera, cornea and glaucoma
- Ear infections
- Hearing loss
- Hips are not much bigger than the waist (high waist-to-hip ratio)
- Has problems with concentration, memory and attention
- Has problems with math, social skills and spatial relations
- Abnormal bone development (especially the bones of the hands and elbows)
- A larger than usual number of moles on the skin
Diagnosis
- Amniocentesis (during pregnancy)
- Karyotype or a chromosome analysis – test of choice
Treatment
There is no cure for Turner’s syndrome. However, the symptoms can be managed by the following:
- Growth hormone
- Estrogen replacement therapy
image from hubpages.com
