Explore This Treatment Program

Overview

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

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

About this Program

In order to provide up-to-date care for people with Turner syndrome, we follow the 2017 Clinical Practice Guidelines established by Claus Gravholt, MD, PhD, and collaborators (including clinic co-director Angela Lin, MD.) Additionally, we help our patients and families appreciate the value of a care plan so that they may effectively coordinate with various healthcare providers as they grow older. Our patients are able to develop an ongoing relationship through periodic visits to our clinic. Dr. Lin (Genetics) and either Dr. Levitsky (Pediatric Endocrinology) or Dr. Hayes (Reproductive Endocrinology) serve as the first points of contact. Referrals are then made to other providers. In some instances, we can schedule a few additional appointments on the same day, but generally, we need the first visit to get acquainted.

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.

Appointments

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

  • Genetics
  • Endocrinology
  • Specialty as needed

For more information or to request an appointment, please call 617-726-1561.

Research

Research provides physicians and the Turner syndrome community a better understanding of various aspects of TS. We value the opportunity to do research in our pursuit of better care options for people with Turner syndrome.

Research Activities from Our Co-Directors

Recent Publications

Jones, K. et al (2018). Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. Am J Med Genet Part A. 2018: 1-11.

Levitsky, L. et al (2015) Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 22(1): 65-72.

Prakash, S. et al (2016). Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry. Am J Med Genet A. 2016, 170(12): 3157-3164.

Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology (Lin et al, 2016)

Gravholt, C. et al (2017). Clinical practice guidelines for the care of girls and women with Turner Syndrome. European Journal of Endocrinology, 177(3): G1-G70. – This article was based on the 2016 Cincinnati International Turner Syndrome Meeting. Dr. Angela Lin, a doctor at MGHfC, helped write these guidelines. The article is written in medical language, but your doctor would be happy to talk about it at your child’s clinic visit.

Our new research assistant, Emma Snyder, joined the team in August of 2018. In her role, she coordinates the advancement of our current research project on Turner syndrome mosaicism. She interacts with patients on the phone and in clinic to discuss the project, and to ensure informed consent is given by those who wish to participate in the study. She also maintains our research database, stays up to date on ethical research practices, and writes our periodic clinic newsletter. Emma is happy to be a part of the team and looks forward to learning from and with clinicians and patients.