Turner Syndrome: Genetic Considerations

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)500 enrolled

Overview

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.

Study Description: This is a supplemental study which proposes to refer Turner syndrome patients within other NICHD protocols to NIAID protocol 17I0122 for WGS to create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants associated with co-occurring conditions. Objectives: * Primary Objective: Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition. * Secondary Objective: Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis. * Tertiary Objectives: Generate and analyze evidence regarding genetic underpinnings and possible variants related to the co-occurring associated conditions in TS, such as von Willebrand Disease, hypertension, anomalies of heart and kidney, and autoimmune conditions.

Study Type

OBSERVATIONAL

Enrollment

500

Conditions

Genetic

Eligibility

Sex: ALLMin age: 1 DayMax age: 110 Years

Medical Language ↔ Plain English

* INCLUSION CRITERIA: 1. Turner syndrome diagnosis based on karyotype 2. Any age 3. Biological parent of Turner syndrome patient 4. Relatives of Turner syndrome patient 5. 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 EXCLUSION CRITERIA: 1\. Diagnosis other than Turner syndrome

Outcomes

Primary Outcomes

Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.

To create a database which will allow for evaluation of patient with turner syndrome and their family member

Time frame: One year

Secondary Outcomes

Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.

To create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants