Turner Syndrome Clinical Trial Information

Turner Syndrome Genotype-Phenotype Study at the NICHD

Protocol Number 00-CH-0219

This study aims to correlate the clinical features of Turner syndrome
with the genes responsible for each feature. This study is designed so
that girls and women (AGES 10 AND UP) with Turner syndrome may benefit
through extensive investigation of potential medical issues. This study
will include genetic counseling and provide participants the opportunity
to discuss their diagnosis, medical and social issues with physicians
and nurses who are involved in the study. In addition, individuals' test
results will be provided in printed form for participants and their
physicians. This study aims to improve the preventative and therapeutic
medical care for girls and women with Turner syndrome.

Eligibility Requirements

Females diagnosed with Turner syndrome and an X-chromosomal deletion or
abnormality affecting at least 80% of cells, ages 10 or older. Thyroid
function test must be normal prior to admission. If individuals are
taking medication for a thyroid condition, this does not disqualify
them.

Exclusion criteria are as follows: individuals must not have any
co-existing autosomal defects, nor be pregnant at time of enrollment in
the study.

Treatment/Procedures

Physical exam, body measurements, blood and urine samples, thorough
evaluation of the heart, kidneys, and bones, brain function and learning
ability evaluations, psychosocial evaluations, genetic counseling and
needs assessment and DNA analysis.

Contsent Forms

Adult Consent Form
Patient Assent for a Minor
Minor Consent Form
Parent of a Minor Consent Form

Please read over the appropriate consent forms above. The consent forms explain the procedures and research tests that are conducted under our protocol.

Principal Investigator

Carolyn Bondy, M.D.
Chief, Developmental Endocrinology Branch
NICHD, NIH
10 Center Dr., CRC 1-3330
Bethesda, MD 20892

Contacts

Dr. Vladimir Bakalov (Bakalov@mail.nih.gov) or Puja Sheth (301) 496-7731