Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Sex Differences in Early Brain Development; Brain Development in Turner Syndrome

This study has been completed.
National Institute of Mental Health (NIMH)
Information provided by (Responsible Party):
Rebecca Knickmeyer Santelli, University of North Carolina, Chapel Hill Identifier:
First received: April 6, 2009
Last updated: May 1, 2014
Last verified: May 2014
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males and females, but the sexes differ in expression. It has been hypothesized that the prevalence and expression of these disorders is related to sex differences in brain development. X-chromosome effects and early exposure to gonadal hormones are strong candidates for a causal role. The aims of the research are (1) to characterize sex differences in brain development from birth to age 2; (2) to test whether brain development is altered in infants with Turner syndrome, a well-defined genetic disorder resulting from the partial or complete loss of one of the sex chromosomes. To address aim 1, high resolution MRI, including diffusion tensor imaging (DTI), will be used to characterize sex differences in brain development from birth to age 2 in a longitudinal cohort of 250 children. To address aim 2, high resolution MRI, including DTI, will be used to compare brain development in 70 infants with Turner syndrome (X monosomy) to matched controls from aim 1. The investigators hypothesize that sex differences in gray and white matter development and in white matter maturation as assessed by DTI will be present during the first 2 years of life and that children with TS will exhibit abnormal gray and white matter development in the neonatal period.

Turner Syndrome

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Sex Differences in Early Brain Development; Brain Development in Turner Syndrome

Resource links provided by NLM:

Further study details as provided by University of North Carolina, Chapel Hill:

Primary Outcome Measures:
  • Brain volumes on MRI [ Time Frame: 2-4 weeks post birth ]

Secondary Outcome Measures:
  • Brain volumes and DTI parameters [ Time Frame: 2-4 weeks post birth, 1 yr, 2 yr ]

Biospecimen Retention:   Samples With DNA
For participating children with Turner Syndrome, subjects may participate in an optional blood draw for DNA extraction and hormone assays.

Enrollment: 295
Study Start Date: October 2006
Study Completion Date: May 2014
Primary Completion Date: May 2014 (Final data collection date for primary outcome measure)
Typically developing children drawn from the general population
Children with Turner Syndrome


Ages Eligible for Study:   up to 2 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Control subjects are recruited from the Prenatal Diagnostic Clinic at UNC-Chapel Hill, which performs over 12,000 prenatal ultrasound scans a year. Please note that all pregnant women in North Carolina are referred for an ultrasound at gestational age 18 weeks as part of routine prenatal care. Subjects with Turner syndrome are identified through the UNC Turner Syndrome clinic, through advertisements with relevant local and national support groups such as the Turner Syndrome Society, and through genetic counselors and other relevant health professionals throughout the United States.

Inclusion Criteria:

  • For controls a child must have a normal ultrasound at the 18 week prenatal visit and the absence of major medical or psychiatric conditions in the mother.
  • Children with Turner Syndrome must have diagnosis confirmed by genetic testing.

Exclusion Criteria:

  • For controls - major medical or psychiatric conditions in the mother and major medical problems or congenital conditions in the child.
  • For Turner children - The study is open to all TS karyotypes except those with Y chromosome material.
  • For both groups children with conditions that preclude participating in an MRI scan ( i.e. metal in the body)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00877942

United States, North Carolina
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599
Sponsors and Collaborators
University of North Carolina, Chapel Hill
National Institute of Mental Health (NIMH)
Principal Investigator: Rebecca C Knickmeyer, Ph.D. University of North Carolina, Chapel Hill
  More Information

Responsible Party: Rebecca Knickmeyer Santelli, Assistant Professor, University of North Carolina, Chapel Hill Identifier: NCT00877942     History of Changes
Other Study ID Numbers: K01MH083045-01 ( US NIH Grant/Contract Award Number )
1K01MH083045-01 ( US NIH Grant/Contract Award Number )
Study First Received: April 6, 2009
Last Updated: May 1, 2014

Additional relevant MeSH terms:
Turner Syndrome
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female processed this record on May 25, 2017