What Is Turner Syndrome?
Turner Syndrome is a chromosomal condition that affects females only.
Classic Turner Syndrome is when the second X chromosome in some or all of the bodies cell, it is shown through a "XO" or 45,X karyotype. A karyotype is a map of each person’s sex cells as shown above, aand a normal karyotype has 46 cells. In a female the sex chromosomes are represented by XX so by saying someone has an XO karyotype it represents the missing chromosome and a 45, X karyotype is saying the woman only has 45 X chromosomes rather than the full 46. A mosaic karyotype is when the X chromosomes are rearranged or broken in some but not all cells of the body.
Turner Syndrome is also known as Bonnevie- Ullrich Syndrome, Gonadal Dysgenesis, and Monosomy X.
Classic Turner Syndrome is when the second X chromosome in some or all of the bodies cell, it is shown through a "XO" or 45,X karyotype. A karyotype is a map of each person’s sex cells as shown above, aand a normal karyotype has 46 cells. In a female the sex chromosomes are represented by XX so by saying someone has an XO karyotype it represents the missing chromosome and a 45, X karyotype is saying the woman only has 45 X chromosomes rather than the full 46. A mosaic karyotype is when the X chromosomes are rearranged or broken in some but not all cells of the body.
Turner Syndrome is also known as Bonnevie- Ullrich Syndrome, Gonadal Dysgenesis, and Monosomy X.
What does Turner Syndrome Look Like?
Turner Syndrome presents itself in many ways through life. When born, a girl with TS will often have puffy hands and feet, the child will be small in stature, and they may have extra skin at the back of their neck. Infants with Turner Syndrome may also present heart abnormalities right from birth. As a young child recurrent ear infections and hearing problem are often present. In the teen years, girls will not develop breast tissue or menstruate at an expected age. Both of these factors are due to under or fully undeveloped ovaries. Adults with Turner Syndrome do not menstruate regularly which causes fertility issues. TS adults are also likely to have hearing, heart and blood pressure problems and will remain small.
Other Signs and symptoms of Turner Syndrome are:
-kidney and urinary tract differences
-diabetes
-eye problems: droopy lids, lazy eye, cataracts
-pigmented moles
-scoliosis
-arched palate
-broad, shield shaped chest
-nipples widely spaced
-osteoporosis
-overweight
-visual spatial learning challenges.
- nail dysplasia
- renal anomoly
- short neck
-low ears
- bushy eyebrows,
- low hairline
- abnormal bone development in hands and feet.
Girls with Turner Syndrome may display a wide variety of these characteristics. Some may have many or few and in any combination.
Other Signs and symptoms of Turner Syndrome are:
-kidney and urinary tract differences
-diabetes
-eye problems: droopy lids, lazy eye, cataracts
-pigmented moles
-scoliosis
-arched palate
-broad, shield shaped chest
-nipples widely spaced
-osteoporosis
-overweight
-visual spatial learning challenges.
- nail dysplasia
- renal anomoly
- short neck
-low ears
- bushy eyebrows,
- low hairline
- abnormal bone development in hands and feet.
Girls with Turner Syndrome may display a wide variety of these characteristics. Some may have many or few and in any combination.
Causes of TS
Researchers are unsure what causes Turner Syndrome although there is a recent study that shows one gene, SHOX, that if you are missing a copy it will likely lead to the short stature and skeletal abnormalities found in women with Turner Syndrome. Turner Syndrome is not associated with environmental factors and is not genetically passed down; it happens when genetic information is dropped during sex cell division and meiosis. Approximately 1 in every 2000-2500 live born females have Turner Syndrome however many girls with Turner Syndrome do not make it to full term. They are either miscarried or still-born.