The eXtraOrdinary Kids Turner Syndrome Clinic

The eXtraOrdinary Kids Turner Syndrome Clinic at Children’s Hospital Colorado treats children, adolescents and young adults with Turner syndrome from across the country. Turner syndrome is a chromosome variation that affects girls. Typically, girls have two X chromosomes. In girls with Turner syndrome, all or part of the second X chromosome is either missing or abnormal. This variation can affect a child’s health and development in many ways.

When you come to our clinic, your child can see experts who specialize in caring for girls with Turner syndrome. We use a unique multidisciplinary approach to address the medical, developmental and psychological needs of girls with Turner syndrome.

The Turner Syndrome Clinic is held once a month. Because every child with Turner syndrome is unique, we tailor our appointments to meet the specific needs and concerns of each patient and their family. This includes selecting the best provider for your child based on your concerns, your child’s age, previous evaluations and current interventions.

Why choose Children’s Colorado for your child’s Turner syndrome care?

• Our clinic is designated as a Level 4 Regional Resource Center by the Turner Syndrome Global Alliance (TSGA). We follow the international Clinical Practice Guidelines for the best care for girls and women with Turner syndrome.
• Our clinic providers have extensive expertise in caring for girls with Turner syndrome. We also have close relationships with other subspecialists, and we can arrange referrals as needed.
• Families can see multiple providers on the same day instead of coming in for separate appointments.
• Families can participate in group educational presentations addressing common features of Turner syndrome.
• Patients with Turner syndrome have the option to participate in research, including the multicenter INSIGHTS Registry.
• Families can connect with other families who have children with Turner syndrome and representatives from the local Turner syndrome support group.
• Our collaborative team of providers meet to discuss your child’s needs together so we can provide the best individualized approach to care.
• After a clinical evaluation, you and your child’s primary care provider will receive a comprehensive report with specific recommendations for your child based on the team assessment. These recommendations support your child’s medical, developmental, academic and emotional needs.

Turner syndrome services we offer

As a multidisciplinary clinic, our Turner syndrome team includes experts from various specialties who offer the following services:

Endocrinology

• Assessment of growth and treatments to promote growth
• Assessment of ovarian function and fertility counseling
• Hormone replacement therapy to start puberty
• Thyroid disease screening, diagnosis and management
• Screening for celiac disease, diabetes, dyslipidemia, liver dysfunction, bone health and other medical conditions associated with Turner syndrome

Genetics and genetic counseling

• Genetic counseling on specific karyotype (collection of chromosomes)
• Counseling on the guidelines for Turner syndrome
• Medical management tailored to genetic phenotypes for all age groups
• Successful transition to adult models of care

Cardiology

• Echocardiography and cardiac MRI
• Management of heart problems present at birth
• Acquired heart and aortic disease monitoring and management
• High blood pressure monitoring and treatment
• Counseling on exercise and pregnancy

Gynecology

• Family planning and fertility counseling
• Birth control and period management
• Adult transitioning
• Options for hormone replacement therapy

Neuropsychology

• Screening and counseling for learning differences
• Screening for developmental and psychological risks in Turner syndrome
• Coordination of full neuropsychological evaluations as needed
• Resources for school supports

Psychology

• Consultation for developmental, social, emotional and psychological concerns
• Support for medical-associated anxiety (such as situational anxiety with blood draws, growth hormone injections or doctor visits)
• Resources for community and school supports and services

Developmental and behavioral pediatrics

• Diagnosis and medical management of ADHD, anxiety and depression, including medication management
• Consultation for developmental and psychological concerns, including sleep difficulties
• Consultation on referrals for therapies and intervention services
• Consultations for individuals with mosaic Trisomy X (a cell line with three X chromosomes)

Otolaryngology (ear, nose and throat)

• Screening and counseling for ear diseases and hearing loss
• Management of chronic ear problems, including medical and surgical options
• Management of other ear, nose and throat conditions

Audiology

• Evaluation and counseling for hearing sensitivity
• Amplification/treatment options if hearing loss is present

Nursing

• Preclinic intake and introduction
• Scheduling and coordination of clinic appointments
• Support with coordinating imaging and laboratory tests
• Demonstration on how to give growth hormone injections

Our child life specialists, social workers and dietitians are also available to support your child as needed. If your family is traveling a far distance to attend our clinic, we can help arrange appointments with other subspecialists at Children’s Colorado for the same week of your visit, whenever possible.

What to expect from your visit to the Turner Syndrome Clinic

Before your visit

Our clinic coordinator will gather information over the phone so we can learn important details about the needs of your child. Please plan to provide:

• A copy of the genetic lab test result confirming your child’s Turner syndrome diagnosis (if this was ordered outside of Children’s Colorado)
• Copies of any other recent laboratory blood test results, diagnostic medical reports, previous IQ or educational tests, evaluations from other specialists, and school IEPs (most recent triennial and annual IEP)

The day of your visit

Our clinic takes place in the Multidisciplinary Clinic on the second floor of the outpatient pavilion at the Anschutz Medical Campus in Aurora. You will have several appointments with different providers on the same day within the clinic.

In addition to individual appointments, we invite families to attend group educational sessions including:

• Orientation to the clinic
• Basic genetic counseling
• Overview of heart healthcare for Turner syndrome
• Age-specific social or educational groups for girls

The day can be long (average of two to five hours) and sometimes you will have breaks between doctor appointments. During these breaks, we encourage you to meet with other families as well as our local family support group, Turner Syndrome Colorado, that supports our clinic.

Because of the nature of our clinic, we presume all patients attending clinic already know about their diagnosis of Turner syndrome. If you have not yet told your child about their Turner syndrome diagnosis, please let the clinic coordinator know before your appointment so our team can be sensitive to your privacy preferences.

The multicenter INSIGHTS Registry

INSIGHTS stands for “Inspiring New Science in Guiding Healthcare in Turner Syndrome.” Doctors at Children’s Colorado lead INSIGHTS, which is a registry research study that collects key information on the medical history of girls and women with Turner syndrome and the clinical care they receive. This includes genetic tests, imaging, medications and more for hundreds of patients across the U.S. In addition to learning a lot about the current state of health for individuals with Turner syndrome, INSIGHTS serves as an infrastructure to conduct future studies that are meaningful to patients and their families.

One of the unique things about INSIGHTS is that families, doctors and researchers from across the country have joined forces to advance research and healthcare for girls and women with Turner syndrome.

Turner Syndrome Global Alliance (TSGA) formed a steering committee made up of stakeholders with multiple perspectives that have worked together to make sure INSIGHTS was designed to collect the right information in the right way. These committee members do not get paid for this work and are truly dedicated to the goal of improving the lives of girls and women with Turner syndrome.

Patients who enroll in the INSIGHTS registry give permission to use their medical records for research purposes. They can also choose to be included on a recruitment list for future studies, participate in surveys about themselves and allow researchers to save their blood to use for future research.

INSIGHTS is available to girls and women with Turner syndrome of any age who are current patients or future patients at the eXtraOrdinary Kids Turner Syndrome Clinic. To learn more, email insights@ucdenver.edu.

Contact the Turner Syndrome Clinic

eXtraOrdinary Kids Turner Syndrome Clinic
13123 E. 16th Ave B140
Aurora CO 80045
Office: 720-777-8375
Fax: 720-777-7868
Turnersyndrome@childrenscolorado.org