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Donate et al. Rare Dis Orphan Drugs J 2023;2:4 Rare Disease and
DOI: 10.20517/rdodj.2023.02
Orphan Drugs Journal

Original Article Open Access

Health disparities in Turner Syndrome: UTHealth
Turner Syndrome Research Registry

1
1
Priscille Donate , Michelle Rivera-Davila , Siddharth K. Prakash 2
1
Division of Endocrinology, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030,
United States.
2
Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston,
TX 77030, United States.
Correspondence to: Prof. Siddharth K. Prakash, Division of Medical Genetics, Department of Internal Medicine, University of
Texas Health Science Center at Houston, 6431 Fannin St., MSB 6.106, Houston, TX 77030, United States. E-mail:
siddharth.k.prakash@uth.tmc.edu
How to cite this article: Donate P, Rivera-Davila M, Prakash SK. Health disparities in Turner Syndrome: UTHealth Turner
Syndrome Research Registry. Rare Dis Orphan Drugs J 2023;2:4. https://dx.doi.org/10.20517/rdodj.2023.02
Received: 16 Jan 2023 First Decision: 28 Feb 2023 Revised: 2 Mar 2023 Accepted: 9 Mar 2023 Published: 16 Mar 2023

Academic Editor: Daniel Scherman Copy Editor: Ying Han Production Editor: Ying Han

Abstract
Aim: Turner Syndrome (TS) is caused by partial or complete absence of the second sex chromosome in a
phenotypic female. TS is associated with recognizable congenital anomalies and chronic health conditions. The
principal objective of this study was to evaluate the health-related knowledge and insight of participants.

Methods: In 2015, we founded the UTHealth Turner Syndrome Research Registry for longitudinal follow-up of
individuals with TS. Study participants were recruited from UTHealth Houston clinics and the Turner Syndrome
Society of the United States. Participants completed a questionnaire about demographics, karyotype, congenital
anomalies, health history, frequency of contact with care providers, and knowledge of care providers about TS.
Results: Forty percent of registry participants indicated that they did not know their karyotypes. Knowledge of
karyotype, which can predict clinical outcomes in TS, markedly varied by self-reported race and ethnicity but not by
age. Participants also reported significant gaps in routine medical and gynecologic care.
Conclusion: We identified knowledge gaps and health disparities that could benefit from improved provider and
patient education.

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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