Since 2007, our eXtraordinarY Kids Clinic team has been conducting
clinical research in X&Y chromosome variations in order to learn more about
the medical problems, developmental milestones, learning, language, motor
skills, behavior and emotions in a wide age-range of individuals with X&Y
Through research, we hope to better understand the strengths and
weaknesses for individuals with X&Y chromosome variations, as well as how
genes on the X&Y chromosomes may influence these different areas.
Current Research Opportunities
We are actively conducting the research studies below. If you are interested in learning more about
a specific study, please contact us!
eXtraordinarY Babies Study: Researching the
Natural History of Health and Neurodevelopment in Infants and Young Children
with Sex Chromosome Trisomy
Purpose of the study:
This study is designed to
research the natural history of neurodevelopment, health and early hormonal
function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex
chromosome variations in an effort to identify early predictors of
developmental and health outcomes. We will also evaluate different
developmental screening tools in infants with sex chromosome variations so we
can develop recommendations for pediatrician caring for infants and young
children with XXY/Klinefelter syndrome, XYY, XXX, and other sex chromosome
Children age 6 weeks to 12
months old, who have a prenatal diagnosis of XXY, XYY, XXX, XXYY, and other sex
chromosome variations are eligible.
- 4-8 study visits over 2-4 years, depending on age and timing of enrollment
Assessments will include:
- Measures of skills in different areas of development including problem solving, language, social, motor, and life skills.
- Physical exam
- Blood, urine, and stool testing for hormone levels, metabolic functioning and DNA banking.
- Scans for body composition (muscle and fat mass, bone density)
- Quality of life outcomes
- Questionnaires & surveys to be completed by parents or caregivers
Study sites include Colorado or
Delaware. Travel budget included if
PI: Nicole Tartaglia, MD
(Colorado) and Co-Investigator: Judith Ross, MD (Delaware)
(COMIRB# 17-0118, ; PI Dr. Nicole Tartaglia; funded by
NIH/NICHD; ClinicalTrials.gov Identifier: NCT03396562)
on Short Term
Outcomes in XXY
Purpose of the Research Study:
This research study will learn more about the effects of
testosterone shots on body fat and development in infants with XXY /
This study is 6 months long and
includes 3 in-person visits at the Children’s Hospital Colorado. At the visits
your baby will have a:
- developmental evaluation
- body fat measurement in a special scale
- a blood draw, urine and stool collection
- physical examination
in the study will receive testosterone shots.
If you have an infant with XXY less
than 3 months old and are interested in learning more about this study, contact us at TESTO@UCDenver.edu or 720-777-6774.
PI Dr. Shanlee Davis; funded by NIH/NICHD; ClinicalTrials.gov Identifier:
Growing up with
X and Y Trisomy: The TriXY Study
Development can vary in children with an extra X or Y
chromosome. It is therefore important to identify children with develop-mental
differences so that appropriate interventions and supports can be provided as
soon as possible. We have limited
knowledge about development in these areas in young children with an extra X or
Y chromosome, and there is still a lot for us to learn. In this study we are
hoping to identify early markers to know which children are at higher risk for
behavior differences. With this knowledge we hope to understand risk and
protective factors which will then allow us to provide better care for infants
with a diagnosis of XXY, XXX or XYY.
Why is study being done:
To better understand the early
neuropsychological and social development of children with XXY, XYY and XXX.
Who can participate:
Children ages 1 year – 5 years old with
any of the following conditions: XXY, XYY or XXX
What does the study include?
- We will ask you questions about the development of your child in person and with online questionnaires
- Your child will participate in some developmental tests where they will play with puzzles and blocks, and look at pictures
- We will assess your child’s behavior while looking at pictures and videos while wearing stickers that measure their body’s response
How long is the study:
Children will be seen for 2 visits; 1 at
baseline and 1 twelve months later. Each
visit will be for 1.5-2 days.
(COMIRB# 17-1710; Enrollment Period October 2017-June 2019;
PI Dr. Nicole Tartaglia; funded by Leiden University, Netherlands awarded to
Dr. Sophie van Rijn)
(No Longer Enrolling)
The Effects of
Testosterone Therapy in Young Adolescents with Klinefelter Syndrome
(COMIRB# 11-0874; PI Dr. Nicole Tartaglia; April 2012-October 2017; funded by
This study investigated the effects of testosterone therapy on
behavior, mood, problem solving, attention span and motor skills in adolescent
males with Klinefelter syndrome in early puberty. During this period in early
puberty, there is much variability in how and when doctors start testosterone
therapy. This study evaluated if there are benefits to starting testosterone
therapy in early puberty.
Participants with Klinefelter syndrome in early puberty
(around ages 10 to 15) were treated with either testosterone gel or a place