The effect of late diagnosis on women with turner syndrome

Authors

• GE Reimann
• LE Comis
• M Bernad-Perman

Abstract

Turner syndrome (TS) is a genetic disorder characterized by partial or complete absence of one X chromosome, affecting approximately 1 in 2500 female births. It typically expresses through physical anomalies and infertility. Early diagnosis optimizes time for treatment interventions, however many women with TS are undiagnosed until adolescence and adulthood. There is limited research comparing psychosocial outcomes of those who receive early vs. late diagnoses of TS. Our analysis examined psychosocial characteristics of women diagnosed before and after age 13, the approximate average age of menarche onset. In our study, age at diagnosis ranged from 0 to 43 years. Results revealed a positive relationship between age at diagnosis and depressive symptoms. Diagnosis after age 13 was also associated with subsequent alcohol and drug use and lower perception of self-efficacy. These findings suggest early diagnosis has critical implications for psychological well-being in women with TS.

Scientific Focus Area: Health Disparities

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