9/3/2023 0 Comments Webbed neck turner syndrome![]() ![]() More information about this will be discussed in the section "Is Turner syndrome inherited?" This is used to analyze the chromosomal composition of the female. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth.ĭiagnosis is confirmed by a blood test, called a karyotype. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis. Turner syndrome may be suspected in pregnancy during an ultrasound test. Diagnosis sometimes takes place later when puberty does not occur. Many girls are diagnosed in early childhood when a slow growth rate and other features are identified. The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.Ī diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. Minor eye problems that are corrected by glasses. Some girls, however, have problems with math, memory skills and fine-finger movements.Īdditional symptoms of Turner syndrome include the following:Īn especially wide neck (webbed neck) and a low or indistinct hairline.Īrms that turn out slightly at the elbow.Ī heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart).Ī tendency to develop high blood pressure (so this should be checked regularly). Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Recurrent infections can lead to hearing loss in some cases. In early childhood, girls who have Turner syndrome may have frequent middle ear infections. They do not start their periods or develop breasts without hormone treatment at the age of puberty.Įven though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal. This does not happen in most girls who have Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. Non-functioning ovaries are another symptom of Turner syndrome. At puberty they do not have the usual growth spurt. They often have normal height for the first three years of life, but then have a slow growth rate. Girls who have Turner syndrome are shorter than average. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. Turner syndrome is a chromosomal condition related to the X chromosome. 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). Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. 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. Turner syndrome is a chromosomal condition that alters development in females.
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