Turner Syndrome Program

About the program

The Turner syndrome clinic provides compassionate care with a multidisciplinary approach. We are a subspecialty program, which means that we do not serve as primary care, but instead we provide each patient with a comprehensive evaluation, specific to the needs of people with Turner syndrome. In turn, our doctors work with the patient’s primary care provider to identify specialty needs, to coordinate care, and to improve outcomes. Our clinic was inspired by a wish to help those with Turner syndrome obtain resources important to their well being at a single institution.

We listened to our patients and their families who felt a clinic model was essential to optimal care. Additionally, we think of our clinic as a wellness center to emphasize that people with Turner syndrome are generally healthy but have ongoing medical needs. We welcome, in particular, patients who have not found a “Turner syndrome medical home” and we provide care across the lifespan.

Our first priority is to evaluate and treat primary care patients at Mass General Brigham for Children, and related programs, or those under our care. Patients transitioning into adulthood will be treated by the Turner syndrome team of adult specialists.

Our Turner Syndrome Clinic is proud to be recognized by the Turner Syndrome Global Alliance (TSGA) as a Level 4 Regional Resource Center. Only nine centers in the nation have been designated as Level 4, the highest Level of Care designation which is based on the KidNECT Care Model which encourages family networking, education, comprehensive coordinated care and transition support as well as leadership in Turner Syndrome research.

Part of Mass General Brigham for Children

Multidisciplinary team

With joint leadership between Medical Genetics and Pediatric Endocrinology, we have assembled a multidisciplinary team of medical, surgical, and mental health specialists.

Our services

• Medical genetics, genetic counseling
• Pediatric endocrinology
• Reproductive endocrinology
• Pediatric cardiology, adult Congenital Heart Disease (CHD) cardiology
• Otolaryngology (pediatric and adult), pediatric audiology
• Gastroenterology (pediatric and adult)
• Neuropsychology (pediatric and adult)
• General pediatrics, adolescent medicine
• Orthopaedics (pediatric and adult)
• Oral maxillofacial surgery and dentistry
• Social work
• Family advocate (parents of children with Turner syndrome)

Our approach

We provide coordinated care that supports communication among specialists as health needs change over time. Patients build an ongoing relationship with our clinic through regular follow-up visits. At the first appointment, you will meet with specialists in genetics and either pediatric or reproductive endocrinology. After learning more about your needs, the team will coordinate referrals to other specialists. Some additional appointments may be scheduled for the same day, but most care planning begins after the initial visit.

Age-appropriate care

We work as a team to help those with Turner syndrome and their families transition from prenatal consultation to infancy to adolescence, and through adulthood and their senior years. Our approach is customized to the age of the patient and their specific needs.

Infants through childhood, birth–age 13

In the pediatric years, the emphasis is on initiating growth hormone as needed, identifying defects (such as congenital heart disease), and on hormone replacement therapy.

Adolescents and young adults, age 14–22

The focus of care shifts from growth and baseline testing to the transition to independence. This differs for every patient, and thus care will be individualized to meet the specific needs of the patient.

Adults

We particularly welcome adult patients, who we may meet in a variety of ways. Some adult patients in our clinic are referred because of infertility evaluations, whereas others may have known for a longer period about their Turner syndrome diagnosis and wish to seek counseling on pregnancy and parenthood. In addition to fertility-related care, we provide multispecialty, coordinated care, even throughout the most senior years.