Current Studies

Dr. Nicole Tartaglia
The Children’s Hospital of Denver
Dr. Tartaglia is the Medical Director for the XXYY Project and has worked with the XXYY Project since 2004 to conduct new research and publish medical papers about XXYY Syndrome.

Psychological and Motor Effects of Testosterone Therapy in Adolescents

Dr. Nicole Tartaglia is conducting a pilot study in adolescent and young adult males with XXY, XXXY, XXYY, and XXXXY on the psychological and motor effects of testosterone therapy during puberty. Males who are being started on testosterone therapy are being evaluated to determine changes in learning, behavior, emotions, and motor skills before and after testosterone therapy. We will also evaluate genetic factors that influence the features of the X&Y variations, and how genetic factors may influence the response to testosterone therapy.

She is currently recruiting adolescent males with XXY, XXXY, XXYY, and XXXXY who are getting ready to start on testosterone therapy. We will conduct assessments before starting therapy, and then again 1 year after therapy. During the year, families and patients will complete behavioral questionnaires at 3 and 6 months after starting testosterone therapy. Testosterone replacement can be prescribed by our 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, and possibly to measure testosterone and LH levels. Children with received a $10.00 gift card for each study visit. Assessments will take place in the eXtraordinarY Kids Clinic.

For more information, contact Susan Howell, MS, CGC, Genetic Counselor and Research Coordinator at (720) 777-8361 or

Development of Sexual Orientation and Gender Role Behavior Study

Male (XXY or XXYY) Volunteers Needed

Researchers at the UCLA School of Medicine are exploring what genetic and psychological factors may influence the development of sexual orientation and gender role behavior. To participate, you will be asked to complete several psychological questionnaires and to submit biological samples for analysis. It will take approximately 15–20 minutes to participate. All will be completed in the privacy of your home and at your own pace. Research packets will be shipped to any location in the U.S. without any expense to research participants. Each participant will be compensated up to $10.00.
This study has been approved by the UCLA Office for the Protection of Research Subjects (IRB # 04-03-011-12) . If you are interested, please contact the principal investigator at UCLA:

Eric Vilain, M.D., Ph.D.
David Geffen School of Medicine at UCLA
Department of Human Genetics
Vilain Laboratory, Gonda Center #5524
695 Charles E. Young Drive, South
Los Angeles, CA 90095-7088
Phone: 310-267-2456

Early Testosterone Treatment

Excerpt from Dr. Tartaglia’s letter on early testosterone therapy:
There is one well-respected researcher and pediatric endocrinologist, Dr. Judith Ross, at Thomas Jefferson University in Philadelphia, who is studying early testosterone treatment for patients with XXY. In her study, she is looking at a small dose of an oral form of an androgen called oxandrolone in children who are 4-12 years of age, and looking at outcomes including genital development, motor strength and tone, and some cognitive/speech factors as well. She is very receptive to having XXYY children included in the study, and she invites you to contact her if you have questions at 215-955-1648 or e-mail
The study involves a visit to Philadelphia, and transportation and hotel is provided. The results of this study are important for treatment of all children with additional X chromosomes, so I encourage your participation because it will help us answer this question.

Central Auditory Processing Assessments

Dr. Jay Lucker, who was a presenter at our symposium, wants to invite everyone who is interested to see him in Washington, DC for Central Auditory Processing Assessments as part of a study he is doing on all the X&Y chromosome variations. If you are going to be in DC, or if you happen to live nearby, please contact him. To my knowledge, there is no cost for this but there would also not be any funding for travel or hotels, etc.  Contact him at:

Dr. Jay R. Lucker, Ed.D., CCC-A/SLP, FAAA
Certified/Licensed Audiologist & Speech-Language Pathologist
Specializing in Auditory Processing & Language Processing
Associate Professor
Dept. of Communication Sciences & Disorders
Howard University
Washington, DC


(Updated 8/26/15)

This research study on XXYY has now been published.  However, NIMH has informed us that they may be calling XXYY families back for a follow-up and further study.

The Child Psychiatry Branch of the National Institute of Mental Health is conducting a study of the effects of sex chromosomes on brain development. This study hopes to determine whether brain-imaging studies of children with sex chromosome variations will help uncover core biological features of these chromosomal conditions.

Male volunteers aged 5-25 with a sex chromosome variation (XYY and XXYY) are needed to participate in this study. Participation involves coming to the National Institutes of Health (NIH) in Bethesda, Maryland (just outside of Washington D.C.) for a one-day visit, which will include:

  • a brief medical history interview
  • a brief physical exam
  • cognitive testing
  • an optional blood draw for genotyping
  • and a brain magnetic resonance imaging (MRI) scan (the MRI scan provides detailed images of the brain without the use of radiation)

For participants who live outside of the Washington D.C. area, transportation and lodging for a 2-night stay will be provided for the child and two parents. In addition, each participant will receive a summary of test results and a souvenir photo of his brain.

For more information about the NIH Sex Chromosome Variations Study, contact:
Jonathan Blumenthal, M.A., Project Coordinator

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