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Page 2 of 7 Donate et al. Rare Dis Orphan Drugs J 2023;2:4 https://dx.doi.org/10.20517/rdodj.2023.02

Keywords: Registry, Turner Syndrome, health disparities, questionnaire

INTRODUCTION
Turner Syndrome (TS) is one of the most common sex chromosome abnormalities, with a prevalence of 1
[1]
in 2000 liveborn phenotypic females . Individuals with TS may come to clinical attention due to distinctive
physical characteristics including short stature, neck webbing, and characteristic chest and limb deformities.
TS karyotypes are highly variable and frequently include two or more mosaic aneuploid cell lines. The most
common TS karyotype is constitutional monosomy of the entire X chromosome. X chromosome structural
[2]
variants or Y chromosome fragments may also be present .
TS affects many organs and is associated with autoimmune, endocrine, and skeletal disorders. The most
common congenital anomalies are cardiovascular and renal malformations. Congenital and acquired
[3]
cardiovascular diseases are the leading causes of mortality . Reproductive health is important to women
with TS because most develop primary ovarian insufficiency. If their uterus is present, they also remain at
risk for cervical or endometrial cancer and require routine health screening as well as testing for sexually
transmitted infections, just as in the general population . The complexities of the conditions associated
[3]
with TS require lifelong monitoring, not only by primary care providers but also by the physician
subspecialists that participate in their care.

The University of Texas Health Science Center at Houston (UTHealth Houston) Turner Syndrome
Research Registry (NCT03185702) was created to investigate risk factors and long-term outcomes of TS-
related health conditions. Participants were recruited from the UTHealth Houston Turner Syndrome Adult
Comprehensive Care Center and from individuals who were referred to us by the Turner Syndrome Society
of the United States (TSSUS). One objective of the registry is to determine the frequency of congenital
anomalies and health conditions in TS. Registry enrollment involves providing a DNA sample (blood, saliva
and/or urine) and answering an extensive questionnaire. Participants also provide consent to include their
medical record data in the registry. Registry data that is securely stored in a REDCap database includes
demographics, karyotypes, clinical findings, laboratory studies, imaging, and clinical diagnoses. Our goal is
to investigate genotype-phenotype associations in TS and prioritize gaps in healthcare in the TS community.

The primary objective of this study was to evaluate participants’ self-reported questionnaire data about their
TS-related health experiences. The questionnaire was intended to provide an overview of TS-related
healthcare in comparison with current clinical practice guidelines, as well as to evaluate the knowledge and
insight of participants about their clinical status and healthcare needs. The data may be useful to evaluate
how communication of health information between providers and TS patients can be improved.

METHODS
The study protocol (HSC-MS-15-0120) was reviewed and approved by the Committee to Protect Human
Subjects at UTHealth Houston.Registry participants consented to be recontacted for new research
studies.Participants or parents (if the participant is under 18 years of age) complete the questionnaire once
at study enrollment. The thirty-seven survey items (Supporting Information) include demographics,
karyotypes, congenital anomalies, medical diagnoses, access to subspecialists, provider knowledge about TS,
and patient satisfaction. Self-reported questionnaire data were extracted from REDCap in May 2021.
Demographic data and karyotypes were confirmed by reviewing available medical records. Descriptive
variables were compared using chi-squared tests. Quantitative variables were compared using t-tests or
Fisher exact tests.