UTHealth Turner Syndrome Research Registry

Turner syndrome (TS) is a common chromosomal disorder that affects approximately 1 in 2500
live female births. Complete or partial monosomy of one of the X chromosomes in a female is
associated with various congenital heart defects (CHDs), which include aortic dilatation,
coarctation of aorta and BAV. Congenital cardiovascular defects related to CHD are the
leading cause of death in women with TS. The Turner Syndrome Network Registry (TRN Registry)
and genetic sample repository can address gaps in knowledge of CHD in TS by facilitating the
recognition of demographic and genetic patterns. TRN Registry-based research can improve
surveillance of TS patients who are at risk for CHD and provide valuable insight into genetic
components of CHD.

The investigators will recruit TS patients into the TRN Registry and obtain blood and/or
saliva samples after informed consent. The genetic diagnosis of TS will be confirmed using
chromosomal microarrays. The array data will be also be used to identify genomic copy number
variants, and rare variants in protein coding genes will be determined by exome sequencing.
The investigators will derive induced pluripotent stem cells from some participants to
determine why CHD is so prevalent in TS. CHD risk genes will be identified in comparisons
between TS cases with and without congenital heart defects. To facilitate these comparisons,
the investigators will abstract the demographic and medical data of registry participants
from questionnaires and medical records. Imaging will be used to confirm the diagnosis of CHD
and to determine the prevalence and severity of additional cardiovascular defects.

Inclusion Criteria:

- Diagnosis of Turner Syndrome

Exclusion Criteria:

- Diagnosis excluding Turner Syndrome