Klinefelter Syndrome

The Weill Cornell Medicine (WCM) Klinefelter Syndrome Care Center offers multidisciplinary care for children and adults with Klinefelter syndrome. Co-directed by Dr. Peter Schlegel of Urology and Dr. Lilian Cohen of Medical Genetics, our program brings together a broad team of experts to offer our patients comprehensive evaluation and subspecialty care. Our goal is to provide the best care based on advances in health information and evidence-based treatment. We are part of the Association of X and Y Variations (AXYS) and the AXYS Clinic Consortium with ongoing efforts to improve clinical care, education, and research.

What is Klinefelter Syndrome?

Klinefelter syndrome is a genetic condition that occurs when a boy is born with an extra copy of the X chromosome. 47, XXY is the most common of the X and Y variants and approximately, 1 in 500 males has an extra copy of the X chromosome. We see families at all ages for genetic counseling and coordination of care. With advances in prenatal screening, families may be referred for genetic counseling and clarification about a new diagnosis. Children and adults with 47, XXY may present with subtle or varying symptoms without obvious physical differences. There may be growth or developmental concerns in early childhood for which referrals are needed in endocrinology, developmental/behavioral pediatrics, or speech/language therapy.

From adolescence to young adulthood, our endocrinologists and urologists can individualize care and treatment to meet specific needs, such as testosterone replacement and fertility management. Adults may often not be detected with 47, XXY until an infertility evaluation, while others who have known about their diagnosis for years may now need fertility-related care or genetic counseling for reproductive planning.

Our Team

Urology

Peter N. Schlegel, MD

https://urology.weillcornell.org/peter-n-schlegel-md-facs

James Kashanian, MD

https://urology.weillcornell.org/james-kashanian

Pediatric Urology

Dix Poppas, MD

https://urology.weillcornell.org/dix-p-poppas-md

Medical Genetics-Pediatric and Adult

Lilian L. Cohen, MD MPH

https://weillcornell.org/llcohen

Jennifer Bassetti, MD

https://weillcornell.org/jbassetti

Genetic Counselors

Katherine Bergstrom, MS, CGC

Tessa Rootenberg, MS, CGC

Pediatric Endocrinology

https://weillcornell.org/pedsendo

Zoltan Antal, MD

http://weillcornell.org/zoantal

Oksana Lekarev, DO

https://weillcornell.org/olekarev

Adult Endocrinology

Melissa Katz, MD

https://weillcornell.org/mkatz

Vivian Rusinek Sobel, MD

https://weillcornell.org/vrsobel

Developmental-Behavioral Pediatrics

Jennifer F. Cross, MD

http://weillcornell.org/jfcross

Elizabeth Poole-Di Salvo, MD MPH

http://weillcornell.org/pooledisalvo

Pediatric Neurology

Belinda Oyinkan Marquis, MD.

https://weillcornell.org/belinda-oyinkan-marquis-md

https://weillcornell.org/services/pediatric-neurology

Speech and Language Pathology

Yvonne Knapp, MS

https://weillcornell.org/yknapp

Neuropsychology

Jessica S. Spat-Lemus, PhD

https://weillcornell.org/jessica_spat-lemus