Alternate names TS Monosomy X Ullrich- Turner Syndrome 45,X
Who? Turner syndrome by definition is exclusively among females. Turner syndrome is found in about 1 in 2,000 female births. It is more common with pregnancies that occur in an older women.
What? Turner syndrome is a sex chromosomal abnormality normally involving the presence of one X chromosome and the absence of a second sex chromosome. TS has a karyotype of 45,X. Turner syndrome may also occur if a second sex chromosome, usually the X chromosome has a structure abnormality. Turner syndrome is not deadly and it will not lower your life expectancy.
Symptoms Turner syndrome symptoms can vary amongst women symptoms minor cosmetic issues to major heart problem. Extra skin on the neck (webbed neck), a low hairline at the back of the neck, low-set ears, problems with breast development, and short fingers and toes are all ways to tell if someone have Turner syndrome. Possible medical problems are problems with the blood vessels or the heart, high blood pressure, kidney problems, hearing problems, and infertility. Also Osteoporosis which is the thinning or weak bones.
Testing During pregnancies you can have a amniocentesis which the only way to detect TS before birth Later in life you can get a karyotype to determine if you have TS.
Treatments Growth hormone treatment can improve growth and influence the final height of the women with TS. Another treatment is estrogen replacement which helps the female develop the physical changes of puberty, including breast development and menstrual periods. This treatment is usually started by ages 12 or 13. None of these treatments can cure Turner syndrome but they can reduce the symptoms.
The MAGIC support group M-major A-aspects G-growing I-in C-children The MAGIC foundation is made up of 25,000+ families who’s children have growth hormone deficiency.
Charlotte's story Charlotte was born as the 4 th child in her family. When she was a little girl she stopped growing. Every time her mom looked at her she knew in her heart that something was different. Just before Charlotte turned three they received the diagnosis that she has turner syndrome. No one can tell that Charlotte has TS because she has been put on growth hormones. She has grown 5 inches in the past year. She has a great vocabulary, but she has some sensory issues. Charlotte and her family fight through every challenge because they know she will be able to live a great, successful, normal life.