When is turner syndrome diagnosed

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. In some cases, a diagnosis is not made until puberty when breasts do not develop or monthly periods do not start. Treatments may include: growth hormone therapy to increase growth rate and achieve a greater final height estrogen therapy to help develop secondary sexual characteristics progesterone therapy to help bring on a monthly menstrual cycle medications to treat high blood pressure, diabetes or thyroid problems, if needed surgery or a procedure to repair heart problems sometimes found with this condition, such as bicuspid aortic valve or coarctation of the aorta.

The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere. Kevin B. Churchwell, President and CEO. Teams may evolve as the needs of girls with Turner syndrome change throughout life. Care team specialists may include some or all of these professionals, and others as needed:.

Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. So it's important to discuss reproductive goals with your doctor. Some women with Turner syndrome can become pregnant with the donation of an egg or embryo.

This requires a specially designed hormone therapy to prepare the uterus for pregnancy. A reproductive endocrinologist can discuss options and help evaluate the chances of success. In most cases, females with Turner syndrome have relatively high-risk pregnancies.

The Turner Syndrome Society of the United States and other organizations provide educational materials, resources for families and information about support groups.

Groups for parents provide an opportunity to exchange ideas, develop coping strategies and locate resources. Peer groups for girls with Turner syndrome can help reinforce self-esteem and provide a social network of people who understand how to live with Turner syndrome. It's important to take your child to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for the doctor to take height measurements, note delays in expected growth and identify other problems in physical development.

If your family doctor or pediatrician believes that your child shows signs or symptoms of Turner syndrome and suggests diagnostic tests, you may want to ask these questions:.

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Diagnosis If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will typically be done to analyze your child's chromosomes.