Management for Patients with Turner’s Syndrome

There are many complications that patients can experience from Turner’s syndrome and it is important to know that there are options on how to manage different symptoms. Family physicians play an important role when developing a regiment that directly helps the complications which can be experienced (e.g. infertility, cardiovascular complications, and osteoporosis). The Turner Syndrome Consensus Study Group, sponsored by the National Institutes of Health’s National Institute of Child Health and Human Development, has published comprehensive management guidelines based on collective expert opinion and a review of existing literature (Table 1).

TABLE 1 Guidelines for the Management of Turner Syndrome

System Timing Clinical issue Intervention Evidence level
Auditory At diagnosis and every one to five years thereafter Sensorineural hearing loss Hearing evaluation; audiology; hearing aids C11
Childhood Recurrent otitis media Pressure-equalizing tubes for middle ear effusion in patients older than three months C11
Bones From 10 years of age to adulthood Osteopenia; osteoporosis Elemental calcium (1,200 to 1,500 mg per day); vitamin D supplementation; appropriate estrogen therapy; exercise C11
First adult office visit Bone mineral density Baseline dual energy x-ray absorptiometry scan C11
Mid- to late adulthood Osteoporosis Bisphosphonate therapy (if high risk) C11
Cardiovascular At diagnosis Congenital heart defects Cardiovascular evaluation; echocardiography or MRI; ECG C11
Every five to 10 years (adulthood) Aortic root dilatation Echocardiography or MRI C11
All ages Hypertension Blood pressure in all four extremities C11
Older girls/adulthood Hyperlipidemia Annual fasting lipid screening C11
Dental Seven years and older Malocclusion and other tooth anomalies Orthodontic evaluation C11
Genetics All ages Presence of Y chromosome material Laparoscopic gonadectomy to prevent gonadoblastoma C11
Immune At diagnosis and annually thereafter Thyroiditis (hypo- or hyperthyroid) Thyroid function tests (i.e., thyroxine and thyroid-stimulating hormone levels) C11
Every two to four years after four years of age Celiac disease Tissue transglutaminase immunoglobulin A measurement C11
Hepatic Every one to two years after six years of age Liver enzymes persistently elevated for more than six months Ultrasonography to evaluate for hepatic steatosis; hepatology consult C11
Lymphatic Usually younger than two years of age Lymphedema Support stockings; decongestive physiotherapy C11
Metabolic Older girls/adulthood Diabetes Annual fasting plasma glucose screening C11
All ages Obesity Target body mass index less than 25 kg per m2 C11
Skeletal/growth Nine to 24 months of age to adulthood (bone age of 14 years) Short stature (i.e., more than two standard deviations below the mean) Human growth hormone with or without oxandrolone (Oxandrin) A15,16
Infancy to four years of age Hip dislocation Physical examination with Barlow/Ortolani maneuvers C11
Teenagers Scoliosis; kyphosis Physical examination with a scoliometer C11
Psychological All ages Self-esteem; learning issues Psychoeducational evaluation (school based); support C11
Ophthalmologic At diagnosis if older than one year Strabismus; hyperopia Ophthalmologic evaluation C11
Renal At diagnosis Congenital renal malformations Renal ultrasonography C11
Reproductive Preteen Puberty Estrogen therapy B17
Adulthood Planned pregnancy Echocardiography or cardiac MRI; high-risk consult C11
Adulthood Infertility Assisted reproduction or infertility consult C11
Adulthood Estrogen deficiency Female sex hormone replacement B17

MRI = magnetic resonance imaging; ECG = electrocardiography.

A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series.

Information from references 11 and 15 through 17. This table was taken from American Academy of Family Physicians online journal


When a child is diagnosed with Turner’s syndrome it is important to identify the defects which need to be addressed and managed first. Usually the first defect that needs to be monitored is their heart. Their heart needs to be monitored and if necessary treated for congenital heart disease. Then physicians will address short stature which patients will receive growth hormone therapy (as early as one to two years of age) if the patient/guardian desires to have the treatments. The next aspect which will need to be managed is the estrogen deficit. Patients can chose to receive estrogen therapy which is highly recommended for sexual development and preservation of bone mineral density.

Patients with Turner’s syndrome will need to routinely have hearing tests conducted for sensorineural or conductive hearing loss they may have or develop. They will also need to periodically have their blood pressure measured and ongoing annual tests to determine if their thyroid is functioning properly along with liver enzyme function, and fasting lipid and glucose levels. Infants and young children may have congenital hip dislocation, so they will need to be examined by their physician using special maneuvers called Barlow/Ortolani maneuvers. Ultrasounds will be performed to diagnose congenital renal malformations.

Since there is no cure for Turner’s at this time, management is very important so patients can live their life to the fullest. It may seem that during childhood it is mostly consumed with an abundance of tests and that a child could not live a happy life with all this going occurring. Here is a video about a girl name Sydney and how Turner’s does not define who she is.


As women grow older and want to start a family knowing the options that are available for reproduction, if any, are extremely important. Females who have Turner’s syndrome are most of the time infertile. However, 2 to 5 percent of patients with Turner’s can conceive children, naturally. The reason some women may be able to experience a spontaneous menstruation or childbirth is because they have an X mosaicism, they have evidence of a second, partial, X chromosome.

In vitro fertilization is being studied as an option women with Turner’s can use to conceived a child if they do not have X mosaicism.

In addition to reproductive counseling, women should transition to adult treatment for the syndrome. They need to manage cardiovascular risk factors by working on maintaining a healing weight, maintain a healthy diet, regular exercise etc. to prevent hypertension, diabetes, and hyperlipidemia, for example. They should also add calcium and Vitamin D supplements to prevent osteoporosis and continue sex hormone therapy.


5 responses to “Management for Patients with Turner’s Syndrome

  1. Kati Kaus

    December 1, 2012 at 6:42 pm

    I really like the table to present your information. Well done!

  2. maherc

    December 1, 2012 at 11:28 pm

    The chart is very helpful in understanding the treatment of the disease. Again, there is a lot of text on this page without any images. I might add a picture in somewhere just to break up all of the writing.

  3. Nemanja Vukovic

    December 4, 2012 at 2:41 pm

    I agree that the chart is very helpful. I think that is one of the most effective ways that the information could have been presented. So definitely keep that. Giving an in-depth analysis for both children and adults was also effective, maybe just place the video at the absolute end of this section however.

  4. tfischer42

    December 4, 2012 at 11:22 pm

    A lot of dense information here, but well-presented and informative. It drives home the point that syndromes are diseases that often require extensive diagnosis to confirm; when we look so hard at one disease, it can be difficult to remember that doctors have a challenging task ahead when presented with the symptoms and needing an accurate diagnosis to ensure adequate treatment.

    Tim Fischer

  5. biowikiproject

    December 5, 2012 at 12:23 pm

    i like how you placed the chart and the video to help separate the different topics on this page.


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