Turner syndrome is a genetic disorder that affects females
. A female who has turner syndrome is often small in stature and runs the rist of many health concerns throughout their lives. These concerns include heart and kidney abnormalities and hypothyroidism. Often times girls with turner syndrome (TS) are at a higher risk for developing celiac disease.
Turner Syndrome can be diagnosed in utero during an amniocentesis. During the amniocentisis the physician performs a test known as a karyotype which is an analysis of the chromosomes. A typically developing female fetus will have 2 X sex chromosome. A female who tests positive for Turner syndrome will be missing some or all of her sex chromosome.
Not all women have amniocentis' during pregnancy which is the only way to detect turner syndrome before birth If, during pregnancy a kayotype is not deemed necessary, it is possible to test for turner syndrome later in life by performing a karyotype at that time. Sometimes, a females symptoms are not severe and therefore turner syndrome is not discovered at first. Symptoms thatwould indicate the need for a karyotype on a person incude but are not imited to; heart problems in infants, swelling of the hands or feet or a webbing of the neck as an infant, or slow growth, delayed puberty, or infertility as a teenager or adult.
There are treatments for turner syndrome, including hormone replacement therapy. Because of the treatments that are available it is important to have a karyotype test run if you suspect turner syndrome in your daughter or have a history of turner syndrome in your family. More information can be found at www.turnersyndrome.org.