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TS affects primarily women and girls, and affects each girl or woman differently.
Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.An especially wide neck (webbed neck) and a low or indistinct hairline.Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.A broad chest and widely spaced nipples.In early childhood, girls who have Turner syndrome may have frequent middle ear infections. Early preventive care and treatment is very important.Turner syndrome may be suspected in pregnancy during an ultrasound test. Recurrent infections can lead to hearing loss in some cases.Non-functioning ovaries are another symptom of Turner syndrome. However, some girls with Turner syndrome have a full or partial absence of the X chromosome in only some of their cells. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis. Estrogen is also given to prevent osteoporosis.A tendency to develop high blood pressure (so this should be checked regularly).Having appropriate medical treatment and support allows a woman with Turner syndrome to lead a normal, healthy and happy life.Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. At puberty they do not have the usual growth spurt.Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. But about 1% of the time, these babies are born, and they have the syndrome.Because of the problems linked to Turner syndrome, doctors will also often suggest tests for the kidneys, heart, and hearing.WebMD does not provide medical advice, diagnosis or treatment.National Institutes of Health-U.S. National Library of Medicine Genetics Home Reference: âTurner Syndrome,â âX chromosome.âTurner Syndrome Society of the United States: âAbout Turner Syndrome.â The Turner syndrome phenotype is characterized by typical dysmorphic stigmata, short stature, sexual infantilism, and renal, cardiac, skeletal, endocrine, and metabolic abnormalities. Turner syndrome ( TS) is the most common sex chromosome abnormality in women and is associated with increased morbidity and mortality. The mother's contribution is always an X chromosome. [3] More information about this will be discussed in the section "Is Turner syndrome inherited?
The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).Diagnosis is confirmed by a blood test, called a karyotype.