The Division of Pediatric Endocrinology at Columbia University Medical Center continues to seek boys with KS (47, XXY) between the ages of 8 and 18 years for a study on growth & development, body composition, hormones, metabolic and psychosocial health factors. To be eligible, boys must be between the ages of 8-18 years, be English-speaking and able to read at the first grade level. In the event an affected (47 XXY) boy is unaware of his diagnosis, non-disclosure will be maintained as per the parent wishes. Since we are measuring affected and non-affected boys, participants may not be aware of whether or not they are affected.

Each participant will receive a free medical exam, blood tests and a $25 American Express gift card for his participation. Parking will also be paid by the study. This study is currently underway. For more information, please visit our study website: http://www.47xxyklinefelteryouth.com or contact Sharron Close at 914-420-4508 for enrollment or for more information about this research opportunity.

Sharron Close, PhD (c), MS, RN, CPNP-PC
Co-Principal Investigator
Irving Pediatric Clinical Research Center
Columbia University Medical Center
New York City, NY

Phone: (914) 420-4508

Email: Sharron Close, Co-Principal Investigator

Dr. Eric Vilain, Director of the UCLA Center for Gender-Based Biology, leads an interdisciplinary team of biologists and psychologists who are seeking to better understand the role that parental origin and skewed inactivation of the X chromosome may play in determining sexual orientation. This study seeks to correlate the parental origin and X-inactivation profile of the X chromosomes with the sexual orientation of the individual, and specifically to compare the genotype and X-inactivation profile of homosexual men with heterosexual men. Dr. Vilain and his staff are currently recruiting adults (18 and over) who are 47,XXY or 48,XXYY (either heterosexual or homosexual) to participate in this research project.

Participation involves each subject completing a confidential questionnaire and providing a saliva sample. If possible, and with the express approval of the subject, a second saliva sample may be requested from the subject’s parents. Collection packets will be shipped to any location without expense to participants, and participants will be compensated for their time.

Eric Vilain, M.D., Ph.D.
Director, Center for Gender-Based Biology
Professor of Human Genetics, Pediatrics and Urology
David Geffen School of Medicine at UCLA
Gonda Center, Room 5506
695 Charles Young Drive South
Los Angeles, CA 90095-7088

Phone: (310) 267-2455
Fax: (310) 794-5446

Email: Dr. Eric Vilain, Director

Dr. Tony Simon and Dr. Nicole Tartaglia are conducting an NIH-funded study that seeks to learn more about brain development and learning differences in XXY and Triple X. Dr. Simon is a cognitive neuroscientist at UC-Davis and Dr. Tartaglia is a developmental-behavioral pediatrician with expertise in X&Y chromosome variations at University of Colorado. Many children with XXY and Triple X score lower on language-based tasks compared to visuospatial or math skills, and this study evaluates the function and structure of the brain to determine how it produces this pattern of strengths and weaknesses. Once more is known, interventions to reduce the learning problems can be developed.

The study takes place at the UC-Davis MIND Institute in Sacramento, California. Children ages 7-14 with XXY and XXX are invited to participate. Children who take part in the study will play computer games, do paper and pencil tests, and have pictures taken of their brain using an MRI machine. For additional information, please click here see the XXY and XXX Brain Development Study flyer and contact Marisol Mendoza.

Marisol Mendoza
The University of California
Davis M.I.N.D. Institute

Phone: (916) 703-0408

Email: Marisol Mendoza

Dr. Nicole Tartaglia, a pediatrician at The Children’s Hospital in Denver, is conducting a study in adolescent and young adult males with 47XXY, 48XXXY, 48XXYY, and 49XXXXY on the psychological and motor effects of testosterone therapy during puberty. Males who are beginning testosterone therapy will be evaluated to determine changes in learning, behavior, emotions, and motor skills before and after testosterone therapy. The study will also evaluate genetic factors that influence the features of the X and Y chromosome variations, and how genetic factors may influence the response to testosterone therapy. The study is recruiting adolescent males with 47XXY, 48XXXY, 48XXYY, and 49XXXXY who are starting on testosterone therapy. Assessments will be made before each adolescent begins therapy, and then again one year after therapy was begun.

During the year, families and patients will complete behavioral questionnaires at 3 and 6 month intervals. Testosterone replacement can be prescribed by the clinic, or by an outside endocrinologist (as long as it is possible to obtain medical records). Blood draws will also be required as part of the study to conduct genetic studies, to measure testosterone and LH levels. Children with received a $10 gift card for each study visit. Assessments will take place at Children’s Hospital.

Susan Howell, Clinic Coordinator
University of Colorado at Denver
Health Sciences Center
Child Development Unit
13123 East 16th Avenue, B140
Aurora, CO 80045

Phone: (720) 777-8361

Email: Susan Howell, Clinic Coordinator

Judith L. Ross, M.D.
Professor, Department of Pediatrics
Thomas Jefferson University
1025 Walnut St., Suite 726
Philadelphia, PA 19107

Phone: (215) 955-1648
Facsimile: (215) 955-1744

Email: Dr. Judith Ross

Judith L. Ross, M.D.
Professor, Department of Pediatrics
Thomas Jefferson University
1025 Walnut St., Suite 726
Philadelphia, PA 19107

Phone: (215) 955-1648
Facsimile: (215) 955-1744

Email: Dr. Judith Ross

To view a preliminary report from the researcher, click here.

Amy Turriff, BS, Associate Investigator
Barbara Biesecker, MS, Principal Investigator
National Human Genome Research Institute
National Institutes of Health
Building 31, Room B1B36C
31 Center Drive MSC 2073
Bethesda, MD 20892-2073

Email: Amy Turriff, Associate Investigator

THIS STUDY IS COMPLETED.  A summary report and the educational booklet are below.

Excerpt from the Original Announcement:  We invite you to participate in a research study that is being done by KS&A in conjunction with Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. The purpose of this study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study will be an educational booklet for parents to give their daughters when they first tell her about Trisomy X.

If you have any questions, please contact Kathleen Erskine at kerskine@gm.slc.edu or 914-361-9093.