Author(s): Gould HN, Bakalov VK, Tankersley C, Bondy CA
Abstract BACKGROUND: Turner Syndrome (TS) is due to X chromosome monosomy and affects ~1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. METHODS: This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. RESULTS: Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30\% of U.S. women (p<0.0001). Eighty percent of the TS group was employed compared with 70\% of the U.S. female population. Approximately 50\% of the TS group had ever married, compared with 78\% of the general female population (p<0.0001). Height and parental origin of the single normal X chromosome had no association with education, employment, or marital status. CONCLUSION: Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage.