Turner Syndrome FoundationTurner Syndrome (TS) is a complex disorder that is managed by specialized healthcare providers at every stage of life. Finding a doctor can sometimes be a challenge. A TS diagnosis requires a variety of physician(s) to be a part of the healthcare team. While there is a growing list of specialized centers of care for Turner Syndrome, there currently may not be one located near you. We urge you to take the initiative to do some research and advocate for yourself to find the care you need, and to advance this cause.
Role of primary and specialty care providers:
Primary care physician(s) are central to your care, maintain your records and medical history. It is good practice to release lab & specialists reports to your primary care physicians for oversight and adherence to best care practices.
Specialists will care for specific medical conditions associated with TS. Most people will have upwards of 10-13 different specialists over a lifetime.
Commonly Sought After Specialists
- Medical geneticist
- Hormone disorder specialist (endocrinologist)
- Heart specialist (cardiologist)
- Kidney specialist (nephrologist)
- Bladder specialist (urologist)
- Specialist in women’s health (gynecologist)
- Specialist in skeletal disorders (orthopedist)
- Ear, nose and throat (ENT) specialist
- Dental specialist in correcting problems with the alignment of teeth (orthodontist)
- Specialist in vision problems and other eye disorders (ophthalmologist)
- Specialist in vision problems and other eye disorders (ophthalmologist)
- Mental health provider, such as a (psychologist or psychiatrist)
- Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
- Special education instructors
- Therapy; speech, physical, occupational
- or other specialist(s)
Your Medical Team
An Endocrinologist is Central to TS Care
Your primary care doctor may refer you to an endocrinologist when there is suspicion or a known problem with your endocrine system. Endocrinologists are trained to diagnose and treat hormone imbalances and problems by helping to restore the normal balance of hormones in your system. They take care of many conditions including:
- Diabetes
- Thyroid diseases
- Metabolic disorders
- Over or under production of hormones
- Pubertal development and menopause
- Osteoporosis
- Hypertension
- Lipid disorders, ie. cholesterol
- Infertility
- Short Stature
Endocrinologists also conduct basic research to learn the way glands work, and clinical research to learn the best methods to treat patients with a hormone imbalance.
Genetic testing may be performed prenatally or sometime after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.
Contact your insurance company and research physicians at HEALTHGRADES.COM to find a provider near you.
Organizing your Medical Team
Organizing your medical team is essential for ongoing surveillance across the milestones and lifespan. It is up to you to find providers that are a good match for you. After you receive a referral for care, call the medical office and speak with a doctor or nurse to ask insightful questions, such as:
- Does the practice care for patients with Turner Syndrome?
- If no, ask if they would be willing to learn more to provide ongoing care. Offer to provide the clinical care guidelines. Send them a link via email or print and bring to the office.
- If yes, ask:
- How many patients with TS have they cared for?
- Mention some of your health concerns and confirm they possess a willingness to help you receive essential, ongoing, evaluations and treatment.
- Do you feel they are responsive to your concerns?
Learn how to form a relationship with your child’s pediatrician, and what to be aware of for her health at every life stage.
Love your doctor? Share a Resource
Become part of the solution. We do not have the answers to every question or a solution for every need. We are asking the community to share resources. The goal here is to gather information about knowledgeable, compassionate, and accessible care providers.
Sharing resources is a great way to make life a littler easiers for others. We are so grateful for our growing community. Together, we can expand access to care!
