Turner Syndrome Clinical Trial Information

Turner Syndrome Genotype-Phenotype Study at the NICHD

Protocol Number 00-CH-0219 (protocol is no longer recruiting)

This study aims to correlate the clinical features of Turner syndrome with the genes responsible for each feature. This study is designed to benefit girls and women with Turner syndrome through comprehensive investigation of potential medical problems related to the diagnosis. This study will 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

Women diagnosed with Turner syndrome and an X-chromosomal deletion or abnormality affecting at least 70% of cells on a peripheral blood cell karyotype, ages 18 or older.

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


Physical exam, body measurements, blood and urine samples, and thorough evaluation of the metabolic and cardiovascular systems.

Principal Investigator

Carolyn Bondy, M.D.
Chief, Section on Epigenetics and Development
10 Center Dr., CRC 1-3330
Bethesda, MD 20892


Dr. Vladimir Bakalov (bakalov@mail.nih.gov) or Liat Gutin (301) 496-7731