Lipids To Energy (LTE) 

The LTE study, Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome, researched how fat is used as a source of energy in males with 47,XXY compared to males with 46,XY. Participants had 3 study visits over a few months. They had a physical exam, a body scan, a blood draw, an exercise test, and a muscle biopsy during these visits. They also wore an activity monitor for a week. Participants with 47,XXY took fenofibrate for one month and then repeated the measures again. This study was approved by COMIRB #21-2860 and funded by NIH/NIDDK.

Growing up with X and Y Trisomy: The TriXY Study 

The purpose of this study was to better understand the early neuropsychological and social development of children with XXY, XYY and XXX. Development can vary in children with an extra X or Y chromosome. It is therefore important to identify children with developmental differences so that appropriate interventions and supports can be provided as soon as possible.  With the knowledge gained from this study, 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. Participants were 1 to 5 years old and had 2 visits each, 1 year apart. At each visit, they completed developmental and behavioral assessments. This was approved by COMIRB #17-1710 and was funded by Leiden University.

The TESTO Research Study 

The Testosterone Effects on Short Term Outcomes in XXY (TESTO) study’s purpose was to learn more about the effects of testosterone shots on body fat and development in infants with XXY / Klinefelter syndrome. Participants came into our clinic 3 times over a 6-month period, where the babies had a developmental evaluation, body fat measurement, blood draw, and physical exam. All participants received testosterone injects over the course of the study. This was approved by COMIRB #17-1317 and was funded by NIH/NICHD.  

The Effects of Testosterone Therapy in Young Adolescents with Klinefelter Syndrome

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 placebo. This was approved by COMIRB #11-0874 and was funded by NIH/NINDS.

Anxiety in Turner syndrome

This study learned about the lived experience of patients with Turner syndrome and anxiety to help us have a better idea of what symptoms, triggers, and solutions for anxiety are in individuals with Turner syndrome. Participants completed an online survey asking about their experience with anxiety. Some of the participants also completed an interview to go more in-depth about their answers. This was approved by COMIRB #22-0550 and was funded by the CCTSI.

Recognizing Anxiety in Turner syndrome Early (RATE)

The purpose of this study was to develop and validate a screening tool for anxiety in patients with Turner syndrome. First, participants completed interviews to help us develop the screening tool. We then had other participants completed the new screener and other surveys online to help us validate it. Some of the participants also completed an interview with a psychologist after doing the surveys. This was approved by COMIRB #23-1584 and was funded by the Ludeman Center.

Fertility COUNTS

This was a needs assessment to support development of a tool to optimize fertility and reproductive health related communication in patients with Turner Syndrome. The goal of the study was to learn how to improve fertility and reproductive health counseling for individuals with Turner Syndrome and their families, because individuals with Turner Syndrome have unique health considerations related to fertility and reproductive health. Participants completed an interview via Zoom. This was approved by COMIRB #21-3990 and conducted by a pediatric endocrinology fellow.

Transition from Pediatric to Adult Care in KS 

The goal of this study was to better understand what it’s like for patients with Klinefelter syndrome (KS) to transition from a pediatric doctor to an adult doctor. Teenager and young adults going through this process completed a survey about their current progress of transitioning to adult care and their lived experience. Some participants also did an interview. This study was approved by COMIRB #23-1456.