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Turner syndrome is a chromosomal condition that affects a child’s development and may cause certain characteristics. A fetus developing with Turner syndrome either doesn’t have a Y chromosome or doesn’t have a functional SRY on the Y chromosome and therefore, will develop into a female child. This is one of the more common genetic disorders, accounting for about one in every 2500 live births, and about 10% of the total number of miscarriages and stillbirths in the United States.
Females are supposed to have two X chromosomes, and males are supposed to have one X chromosome and one Y chromosome. Turner syndrome is the result of having one normal X chromosome, and either no other sex chromosome or another that isn’t complete or isn’t arranged incorrectly. This is not a hereditary disorder but is considered to occur randomly during the formation of reproductive cells. The most common blood test used to diagnose Turner syndrome is a karyotype that analyzes the chromosomal composition of the female.
Common characteristics include short stature and skeletal abnormalities because a gene is missing from the X chromosome called SHOX, and a lack of ovarian development. Other physical characteristics of the syndrome can include extra skin on the neck, arms that turn out slightly at the elbow, a low hairline in the back of the head, puffiness, or swelling of the hands and feet, heart defects, kidney and thyroid problems. Girls born with obvious physical characteristics of Turner syndrome are usually tested and diagnosed at birth. Others aren’t diagnosed until they are expected to go through puberty, but don’t.
Since Turner syndrome is a chromosomal condition there isn’t an actual cure for it, however you can effectively treat many of the symptoms. For example, short stature may be affected by the use of growth hormone and estrogen replacement therapy may promote the development of secondary sexual characteristics.
Other names sometimes used for Turner syndrome are Bonnevie-Ullrich Syndrome, monosomy X, TS, Ullrich-Turner syndrome, and 45,X.
What’s Klinefelter’s Syndrome or “XXY Males.”
Delayed Puberty
Pituitary Dwarfism
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