Scoliosis deformity of the spine occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
A 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. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet. The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries.
Many girls are diagnosed in early childhood when a slow growth rate and other features are identified. Diagnosis sometimes takes place later when puberty does not occur. Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis.
If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth.
Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyze the chromosomal composition of the female. More information about this will be discussed in the section "Is Turner syndrome inherited?
During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism. Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.
Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis. Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert cardiologist will assess and follow up any treatment necessary.
Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist ENT may be involved in caring for this health issue.
High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis. Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, problems with the heart or kidney are detected.
Lymphoedema , a condition that causes swelling in the body's tissues, can affect unborn babies with Turner syndrome, and may be visible on an ultrasound scan. Turner syndrome is sometimes diagnosed at birth as the result of heart problems, kidney problems or lymphoedema. If a girl has the typical characteristics and symptoms of Turner syndrome , such as short stature, a webbed neck, a broad chest and widely spaced nipples, the syndrome may be suspected. It's often identified during early childhood, when a slow growth rate and other common features become noticeable.
If a child exhibits common traits indicated, she should be screened without delay to rule out this potential syndrome. The best source of information is a pediatric endocrinologist who specializes in the care of patients with Turner Syndrome. Do your own investigative research and read everything you can. Familiarize yourself with the Clinical Guidelines, join parent groups and attend workshops or webinars whenever possible. Information for an infant is quite different and will evolve over various stages of life.
It will be important to be vigilant about ongoing self-advocacy, education, support services and care. Your primary care doctor may refer you to an endocrinologist when there is suspicion or a known problem with your endocrine system.
Endocrinologists are trained to diagnose and treat hormone imbalances and problems by helping to restore the normal balance of hormones in your system.
They take care of many conditions including:. Diabetes Thyroid diseases Metabolic disorders Over or under production of hormones Pubertal development and menopause Osteoporosis Hypertension Lipid disorders, ie. Endocrinologists also conduct basic research to learn the way glands work, and clinical research to learn the best methods to treat patients with a hormone imbalance. Since Turner syndrome is a complex condition affecting each person uniquely, patients may be seen by any number of specialists; including, cardiology, nephrology, dermatology, gastroenterology, orthodontic, orthopedic, ENT, opthomology, psychiatry, and so on.
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