Keywords

Turner syndrome; Bone mineral density; Osteoporosis; X chromosome abnormalities; Estrogen deficiency; Hormone replacement therapy

Abstract

Turner Syndrome (TS) is a chromosomal disorder from conception characterized by the partial or complete absence of the second X chromosome in females. Chromosomal abnormalities, both numerical and structural, contribute to a significantly higher prevalence of fractures (30.5-32.2%) compared to non-TS postmenopausal women (14.9%). This highlights the intrinsic bone abnormalities associated with TS and increased fracture risk. Peripheral quantitative computed tomography (pQCT) is commonly used to assess bone mineral density (BMD). However, its accuracy in individuals with TS is limited due to the partial volume effect, highlighting the need for further clinical research to understand bone density changes compared to healthy controls. Osteoporosis is a significant comorbidity in TS, characterized by reduced bone quality and altered microstructure. Factors directly contributing to osteoporosis in TS include X chromosome abnormalities, hormonal imbalances, metabolic syndrome, and autoimmune disease. Current management strategies involve estrogen and growth hormone replacement, along with progastrin and bisphosphonates. Therapies targeting the inhibitors of the Wnt/β-catenin pathway could improve BMD and bone quality and reduce fracture risk. However, more clinical research is needed to understand the bone density compositional changes that occur to optimize therapeutic approaches for individuals with TS.

Thesis Completion Year

2024

Thesis Completion Semester

Fall

Thesis Chair

Coathup, Melanie

College

College of Medicine

Department

Burnett School of Biomedical Sciences

Thesis Discipline

Medicine

Language

English

Access Status

Open Access

Length of Campus Access

None

Campus Location

Orlando (Main) Campus

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Rights Statement

In Copyright