Turner Syndrome: Genetic Considerations
Background: Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS.
Objective: To create a genetic database of people with TS.
Eligibility: People of any age with TS. Biological parents and other relatives are also needed.
Design: Participants who agree to join this study will be asked to enroll in a second study; that study is called NIAID Centralized Sequencing Protocol (Protocol No. 17I0122). Participants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour. The information collected in those tests will be collected for use in the database created as part of this study.
⁃ Turner syndrome diagnosis based on karyotype
• Any age
• Biological parent of Turner syndrome patient
• Relatives of Turner syndrome patient
• The subject from protocol 20CH0126 will enroll in this study only when they agree to be referred to the 17I0122 NIAID study. They can withdraw participation in the 17I0122 study if they do not want to have their genetic data in this database