Turner Syndrome Genotype-Phenotype Study
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.
Turner Syndrome Screening Protocol Flyer
Turner Syndrome Protocol Document
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.
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 Lea Ann Matura, Ph.D.
(1-888-437-4338),
