Author ORCID Identifier

0000-0001-7769-5937

Date of Graduation

5-2021

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Dr. David Rodriguez-Buritica

Committee Member

Dr. Siddharth Prakash

Committee Member

Dr. Michelle Rivera

Committee Member

Dr. Melissa Aldrich

Committee Member

Kate Mowrey

Abstract

Turner syndrome (TS) is associated with distinct manifestations in women and girls involving many mesoderm-derived body systems, including endocrine, cardiovascular, lymphatic, and renal. Many TS signs and symptoms may go undetected until teenage years or later. Non-mesoderm-derived manifestations of dermatological nature, which are just as common as other features of TS, but often present either at birth or soon after, can aid in earlier detection and impact clinical management. The main objective of this study was to determine self-reported prevalence of various dermatological manifestations in a sample of women and girls with TS. We created a six-part questionnaire that included demographic information, dermatology referral experience, impact on quality of life, dermatological manifestation history, special issues in growth hormone therapy, and family history. We analyzed 241 responses from the UTHealth TS registry, TS Society of the United States, and TS social media groups. Although many dermatological concerns present during the first few decades of life, the overwhelming majority of respondents are not provided with dermatology referrals at diagnosis and/or available treatment methods. Some conditions like dry skin, lymphedema, vitiligo, abnormal nails, and history of skin biopsy due to a suspicion for skin cancer were especially predictive of deleterious impact on quality of life. Our data reveal that many skin conditions are highly prevalent in the TS population during the early decades of life and affirm utilizing these conditions in the TS diagnostic process, as well as indicate the need for specialized dermatology referrals to address detrimental quality of life impacts related to skin concerns.

Keywords

Turner syndrome, dermatology, skin, hair, nails, prevalence

Available for download on Thursday, May 05, 2022

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