Ongoing, specialized medical care is essential for those with Turner Syndrome (TS). The Turner Syndrome Foundation (TSF) offers a Professional Membership Program for healthcare professionals to network, share resources, and register themselves as TS providers in our registry. Communication is the cornerstone of effective care for TS patients and their caregivers. TSF has developed this program to assist allied health professionals with the complex medical needs of patients with TS. Whether you are an individual with TS, or a parent or caretaker, the information below can help you understand how to manage the condition throughout all life stages.
Importance of Specialized Medical Care
To provide excellent medical care for patients with TS, it is important that physicians be aware of the common issues faced by patients with the condition during each stage of life.
During pregnancy and at birth, common signs of TS include large fluid collection on the back of the fetus’/baby’s neck, as well as heart and kidney abnormalities. Amniocentesis or chorionic villus sampling (CVS) can be performed to test for TS. Karyotyping may be done at birth to confirm diagnosis.
During the toddler years, in additional to slow growth, certain behaviors may indicate a child has TS. These include being exceedingly bold or shy at certain times, highly energetic, or talkative.
During childhood, certain learning difficulties, including nonverbal learning disorder (NVLD), attention and hearing problems, as well as growth delays, are common in patients with TS.
During adolescence, common issues patients with TS face include delayed puberty, short stature, as well as certain cognitive and social difficulties.
TSF's Professional Membership Program
TS is a rare genetic disorder, and it is vital that individuals with the condition have access to medical providers who have the proper experience and knowledge to provide them the best care possible. The Professional Membership Program’s goal is to unify a network of distinguished health care professionals who have shown an interest in improving the care of patients with TS.
By joining this program, medical professionals gain access to an exclusive website dedicated to TS care, as well as a network of other medical professionals with whom they can share knowledge and research. Additionally, their practice will be highlighted on the TSF website, which will greatly improve outreach to people looking for care.
The Professional Membership Program also allows patients to easily identify medical care providers within their area who treat patients with TS. Upon joining this program, providers will also receive free patient materials, which are a great source of support and knowledge for their patients.
This program helps TSF achieve its most fundamental goals, which are to support research, raise awareness, and enhance the quality of medical care for individuals with TS. To learn more about this program, click here.
Early diagnosis is extremely important for patients with TS, as it allows for timely implementation of therapeutic treatment. We spoke with Dr. Doris Fadoju, Director of the TS Clinic at Children’s Healthcare of Atlanta about how TS is most commonly diagnosed in children. She stated that “TS is often detected when girls present to their pediatrician with short stature or failure to start puberty at an appropriate age. Other times, it can be detected when babies present with certain heart conditions, like coarctation of the aorta or bicuspid aortic valve, or other features that tend to be common amongst girls who have TS.”
Dr. Fadoju described common signs of TS in children, which include:
- short stature;
- delayed puberty or lack of a menstrual period;
- heart conditions, including coarctation of the aorta and bicuspid aortic valve;
- kidney changes, including missing kidneys or irregular rotation of the kidney;
- multiple ear infections and hearing loss;
- autoimmune conditions, including thyroid disease, celiac disease, and diabetes;
- multiple moles on the body and face;
- high blood pressure; and
- upturned fingernails and small nail beds.
Regarding diagnosis, Dr. Michelle Rivera, co-founder of the University of Texas Health TS Adult Comprehensive Care Center in Houston, explained that “a karyotype study is the most common test used to diagnose TS. This is a test where we look at the number and type of chromosomes present in blood cells or in
other tissues, such as the cells found in the saliva. A person with TS has one X chromosome and is missing all or part of the other sex chromosome (X or Y).”
We also asked Dr. Rivera how parents of children with TS can best advocate for them. She suggested parents “maintain a close relationship and follow up with your child’s pediatrician and other specialists, especially an endocrinologist and cardiologist. Keep a copy of your child’s most important and recent lab results and imaging studies, such as the karyotype, EKG, echocardiogram, and renal ultrasounds. Join parent groups and become a member of organizations such as TSF and the Turner Syndrome Society of the United States (TSSUS). They serve as a very supportive community and can be a source of information on where to go to receive the best care for your child. Keep a close eye on school performance and mental health, and seek help as soon as any concerns arise.”
The transition from pediatric to adult care for individuals with TS is an important process. It is vital that patients feel supported and empowered when choosing a new care team. Transitioning to an adult care team typically begins at 18 years old and can take two to three years. Finding a new care team should involve coordinated efforts by both the patient and their pediatric care team. While the level and type of care individuals require will vary, most patients will need annual screening for heart issues, diabetes, kidney function, liver function, blood pressure, and cholesterol.
Patients with TS will most likely need to be followed by an endocrinologist, cardiologist, opthamologist, otologist (ENT specializing in ear care), audiologist, and fertility specialist throughout adulthood. Implementing a transition team is vital for supporting individuals with TS, as doing so ensures they have a source of knowledge and support. It also allows them to make informed decisions about the type of care they need. Having a cohesive team protects the patient by ensuring a safe transition to adult care.
One example of transitioning TS patients to adult care can be found at Penn Medicine in Pennsylvania. They employ a multidisciplinary intervention navigation team (MINT). This team provides consultations with endocrinology and other subspecialties. They can also confirm a diagnosis of TS, if necessary. Programs like this are dedicated to ensuring a continuum of care between childhood and adulthood and are a strong resource for patients. Learn more about their approach to treating TS in adults here.
In particular, cardiovascular health is of paramount concern for patients with TS. A baseline magnetic resonance imaging (MRI) or magnetic resonance angiography (MRA) should be completed upon diagnosis. If a patient has not had this screening, they should schedule it. In the absence of bicuspid aortic valve or other significant disease at the initial screening, a transthoracic echocardiogram (TTE) or cardiac magnetic resonance imaging (CMR) should be performed every 10 years in adults with TS, or prior to anticipated pregnancy.
Consider protecting yourself by carrying a TSF emergency contact card on your person to alert others of your medical condition(s) and risks.
What You Can Do
If you are a patient or caregiver of a person with TS, here are some things you can do to ensure the best care possible:
- Educate yourself and your medical providers about TS, the conditions associated with it, and the specialists you should be seeing. Check out the Guidelines & Resources on TSF’s website. Also, encourage your medical providers to join TSF’s Professional Membership Program!
- Ask questions! Don’t be afraid to raise your concerns or issues with your medical team. They should listen and provide clear answers.
- Be patient with yourself! TS is a complex condition and can be overwhelming. Take one step at a time.
- Consider creating a checklist or spreadsheet of the medical exams/tests you should have.
- Join Star Sisters, a private, online group that offers education, community and support for those affected by TS.
If you are a medical professional who treats patients with TS, here is what you can do to provide the best care:
- Educate yourself about TS diagnosis, symptoms, and treatment (see links below).
- Listen to your patients’ concerns, and answer their questions honestly and compassionately. Every patient with TS will present differently.
- Consult with parents regarding how much they have already told their child about their diagnosis. Encourage parents to provide honest, age-appropriate information.
- Order a Medical Office Kit for your practice (contains clinical guidelines, educational materials, posters, patient literature, and more).
- List your practice in TSF’s Professional Registry so patients can find you.
- Join TSF’s Professional Membership Program to network and share information and research with other providers.
- Watch or present a TSF WE Learn webinar.
Written by Taylor Moore, TSF volunteer blog writer, and edited by Susan Herman, TSF Blog Coordinator.
© Turner Syndrome Foundation, 2022