Psychopathology and social functioning in women with Turner syndrome

Turner syndrome (TUS) in women is associated with sex chromosome abnormalities, ovarian dysgenesis with estrogen deficiency, and short stature. The goal of this study was to assess the long-term effects of these sex chromosome and hormonal anomalies on psychopathology and social functioning. We report interview and questionnaire data concerning lifetime history of mental disorders and current psychiatric symptoms. Also reported are data from questionnaires and interviews evaluating social functioning as measured by education, occupation, personal resources, and sexual behavior. Twenty-three TUS women were studied and compared with 23 closely matched women with constitutional short stature (CSS) and with 10 normal sisters of the TUS women. TUS women reported generally less mental disorder and comparable rates of psychiatric symptoms. On the other hand, they had lower overall functioning on a measure of global psychological health and had more impairment in social functioning as measured by achievement of adult milestones. We conclude that TUS women display less mental illness by positive symptom-oriented criteria but also less mental health when day-to-day functioning is considered. Our data suggest that differences in TUS women cannot be explained solely by short stature and may be related to other psychosocial, genetic, endocrine, or CNS effects of the syndrome.