Frequently asked Questions (FAQs) about Healthy Aging for Women with Turner Syndrome

Which specialists should women become familiar with, if they are not already?

To maintain healthy aging with Turner Syndrome, women should be familiar with endocrinologists, cardiologists, nephrologists, ENT, gynecologists/reproductive endocrinologists, gastroenterologists, ophthalmologists, and dermatologists.

What are some important aspects of care for adults in regards to…

Cardiac health?
Congenital heart disease occurs in up to 50% of girls and women with TS, with left-sided heart defects most common (such as bicuspid aortic valve, and coarctation (narrowing) of the aorta).  An initial evaluation should be performed at diagnosis.  A baseline EKG (electrocardiogram) should also be performed, as girls and women with TS are at risk for heart rhythm abnormalities.  After that, follow up with a cardiologist is recommended every 3-5 years if no heart issues are found, and as much as every 6 months-yearly for those with congenital heart issues. 

Congenital heart disease occurs in up to 50% of girls and women with TS, with left-sided heart defects most common (such as bicuspid aortic valve, and coarctation (narrowing) of the aorta).  An initial evaluation should be performed at diagnosis.  A baseline EKG (electrocardiogram) should also be performed, as girls and women with TS are at risk for heart rhythm abnormalities.  After that, follow up with a cardiologist is recommended every 3-5 years if no heart issues are found, and as much as every 6 months-yearly for those with congenital heart issues. 

Girls and women with TS are at risk for cardiovascular issues such as hypertension (high blood pressure), coronary artery disease, and stroke. It is important that cholesterol issues (hyperlipidemia) and elevated blood pressures are addressed and treated appropriately by a cardiologist.

Bone health?
Women with TS are at risk for fractures and low bone mineral density (osteopenia/osteoporosis).  The risk for fractures and osteoporosis is significantly reduced if growth hormone and estrogen replacement start in early adolescence, as discussed in the Care Guidelines,.  For adults with TS, a bone mineral density scan (DXA) is recommended.  An experienced physician, such as an endocrinologist, should be enlisted to accurately read bone mineral density scan results, as girls and women with TS have small bones that can make appropriately reading bone mineral density challenging.  Vitamin D level should also be checked and treated if low to help promote could bone health.

Thyroid health?
Girls and women with TS are at risk for antibody-driven (autoimmune) inflammation of the thyroid gland (thyroiditis), which most often causes an underfunctioning thyroid gland (hypothyroidism).  As thyroid hormone is important for good heart and bone health, this is particularly important to screen for and to treat if needed.

Kidney health?
Congenital kidney abnormalities can be seen in approximately one third (about 25-40%) of girls and women with TS, such as “horshoe” kidney and duplication of the collecting system (ureters) that transfer urine from the kidneys to the bladder.  A renal (kidney) ultrasound should be performed at diagnosis to screen for any kidney problems. Any kidney issues should be closely followed by a nephrologist.

Gynecological health?
The majority of girls and women with TS have premature ovarian failure that should be followed long-term by a gynecologist or reproductive endocrinologist experienced in the care of women with TS and ovarian failure. 

Gastrointestinal health?
Girls and women with TS are at risk for intestinal problems, such as celiac disease (intolerance of gluten, a protein found in wheat), and inflammatory bowel disease (such as Crohn’s disease).  A celiac screening is recommended for those with TS at baseline and every 5 years in adulthood.  Girls and women with TS are also at risk for elevated liver tests that can indicated abnormal liver functioning, and liver tests should be checked yearly.  Any problems with abdominal pain, diarrhea, or intestinal bleeding should be promptly addressed by a gastroenterologist.

Hearing?
Hearing loss (sensorineural) is common for girls and women with TS.  A baseline hearing screen by an audiologist and a baseline ENT evaluation are important.  With age, many women with TS have progression of hearing loss and need some help with hearing, such as the use of hearing aids.

Vision?
Eye problems, such as nearsightedness, strabismus (abnormal eye alignment), and ptosis (“droopy” eyelids) can be seen in girls and women with TS.  Eye problems should be screened for at diagnosis and monitored in adulthood as recommended by an ophthalmologist.

Skin?
Girls and women with TS often have multiple moles, or nevi, that require close monitoring by a dermatologist to screen for skin cancers.

Existing literature recommends women with TS continue estrogen replacement therapy once growth is completed.  For those who are diagnosed in adolescence or later, is estrogen replacement still necessary?  If so, when should it begin/end?

Ideally, estrogen replacement should start at 12-13 years of age in those who have ovarian failure documented by their endocrinologist. In adolescence, estrogen therapy, in conjunction with growth hormone therapy, helps to build an adequate “bone bank,” or bone mineral density.  After adolescence, estrogen therapy should be continued to help maintain good bone mineral density and for heart health (estrogen is helpful for keeping cholesterol and triglycerides normalized).  The current suggestion for women with TS is to continue estrogen replacement until approximately 55 years of age.

What do you recommend to your patients transitioning out of pediatric care?

An internist familiar with treating adults with TS (and also familiar with the 2017 TS care guidelines), in conjunction with a gynecologist/reproductive endocrinologist familiar with treating adult women with TS and ovarian failure, is very important in the transition out of the care of a pediatric endocrinologist.  You can find a TS Pediatric to Adult Care Transition Toolkit on the American College of Physicians website under Endocrinology: https://www.acponline.org/clinical-information/high-value-care/resources-for-clinicians/pediatric-to-adult-care-transitions-initiative/condition-specific-tools

What about learning and psychological issues associated with TS?

Learning issues are common in girls and women with TS, specifically nonverbal learning disorders and processing disorders (reduced speed in taking in and processing information).  A neurocognitive evaluation is recommended prior to entering school, when transitioning to high school, college, and other higher education, and any time that difficulties arise.  These learning issues, if present, can cause difficulty in the work environment.  Women with TS often struggle with low self esteem.  Coaching in employment and life skills can be very helpful in creating a successful working environment.  Girls and women with TS also tend to struggle more with anxiety and social isolation.  Having a good social support network of family and friends is extremely important to building appropriate self-confidence in social interactive situations and in building lifetime relationships.

“The Clinical Practice Guidelines for the Care of Girls and Women with Turner syndrome” is a wonderful resource in going into more detail on any of the above topics mentioned.

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