Offered by: Nemours Children's
Location: Delaware Valley
The purpose of this study is to learn more about sex chromosome variations (also called sex chromosome aneuploidies, or SCAs) in children. We would like to better understand how sex chromosome variations play a role in health and development.
Children between the age of six weeks and seven years old with a diagnosis of a sex chromosome trisomy such as XXY, XYY, XXX or other rare SCA such as XXYY, XXXY or XXXX are eligible to participate in this study.
Your child’s participation in this study will require up to seven appointments, or until your child reaches six or seven years of age. Your child’s participation will end at the end of the study period. If your child joins the study, he or she will be evaluated for their health and development through different assessments. These include physical examinations and measurements, blood and urine samples, standardized developmental testing and behavioral questionnaires completed by a parent.
At the beginning of the research visits at 2 mos, 6 mos, 12 mos, 24mos, 36 mos and 5-7 years old, we will collect a blood, urine and stool samples so we can look at your child’s hormone levels and other chemicals in the blood and urine. A basal metabolic rate measurement will be taken at the 2–6 mos, 12 mos, 36 mos, and 5-7 years old visits depending on your child’s weight. Also, body composition will be measured by a DEXA scan at the 36 mos visit.
Nemours has a number of service regions. Selecting your region will help us show you the right contact information and the most relevant content for you.