Explore This Clinic

Care During COVID-19

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The MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. We are a subspecialty program, which means that we do not offer routine primary care but instead we offer our patients a comprehensive evaluation, specific to the needs of people with Klinefelter syndrome. Our doctors work with patients’ primary care providers to identify specialty needs, to coordinate care, and to improve outcomes. Our multidisciplinary clinic was inspired by patient feedback, and it is our hope that those living with Klinefelter syndrome can consider our clinic a “medical home.” We welcome all those living with Klinefelter syndrome and offer a wide range of providers.

In order to provide up-to-date care for people with Klinefelter syndrome, we take an evidence-based approach to care, informed by clinical and scientific research publications. Additionally, we emphasize the establishment of a care plan so that patients may effectively coordinate with all healthcare providers, even at institutions outside the Partners network.

We believe in the development of an ongoing relationship with our patients, aided by periodic visits to our clinic. Dr. High in Genetics and Dr. Hayes in Reproductive Endocrinology will serve as first points of contact. From there, patients and their families may establish subspecialty care with other providers. 

Age-Appropriate Care

We work as a team to help those with Klinefelter 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. Although many people with Klinefelter syndrome receive diagnoses later in life, we provide care across the lifespan.

Infants through Childhood Birth – age 13

In the pediatric years, the emphasis is on addressing learning and behavioral challenges and on identifying physical differences (such as genital problems) that may benefit from surgery or other intervention as needed.

Adolescents and Young Adults Age 14-22

The focus of care shifts to address issues related to puberty, weight, and metabolism, as well as initiating testosterone replacement therapy as needed. This will look different for every patient, and thus care will be individualized to meet specific needs of the patient.


We also 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 Klinefelter syndrome diagnosis and wish to seek counseling on parenthood and their overall health.

In addition to fertility-related care, we provide multispecialty, coordinated care, even throughout the most senior years.

Our Services

We can also facilitate referrals to other specialists as needed.


At MassGeneral Hospital for Children, we integrate clinical practice and scientific innovation to provide cutting-edge care for our patients.

Research Activities from Our Co-Directors

Frances High, MD, PhD, Medical Genetics

Frances Hayes, MBBCh, BAO, Reproductive Endocrinology

Clinical Practice Guidelines and Research Articles

Testosterone Therapy for Hypogonadism: Although not specific to Klinefelter syndrome, these guidelines provide an outline of the current recommendations in treating hypogonadism (one feature of Klinefelter syndrome.)

Klinefelter Syndrome (KS): Research Activities and Scientific Advances (National Institute of Child Health and Human Development)

Groth et al., 2013. Klinefelter Syndrome—A Clinical Update. The Journal of Clinical Endocrinology & Metabolism, 98, 20-30.