Turner syndrome or Ullrich–Turner syndrome (also known as "Gonadal dysgenesis"), 45,X, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or "Turner mosaicism".
Occurring in 1 in 2000 – 1 in 5000 phenotypic females, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.
Turner's syndrome is named after Henry H. Turner.
Read more about Turner Syndrome: Signs and Symptoms, Cause, Prognosis, Treatment, Epidemiology, History
Famous quotes containing the words turner and/or syndrome:
“O shining Popocatapetl, It was thy magic hour:
The houses, people, traffic seemed
Thin fading dreams by day;
Chimborazo, Cotopaxi
They had stolen my soul away!”
—Walter James Turner (18891946)
“Women are taught that their main goal in life is to serve othersfirst men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to ones own interests and desires. Carried to its perfection, it produces the martyr syndrome or the smothering wife and mother.”
—Jean Baker Miller (20th century)