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|
|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.
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.