Background: In addition to short stature and ovarian insufficiency, women with Turner syndrome (TS) are at increased risk for multiple chronic health conditions, especially as they age. Reports describing the presence of comorbidities in older adult women with TS are limited. The objective of this study was to examine the prevalence of endocrine, gynecological, and other chronic medical conditions in a large cohort of adult TS patients. Methods: We performed a retrospective chart review of women with TS attending our adult TS clinic jointly run by gynecology and endocrinology at a university-based ambulatory hospital in Toronto, Canada. All patients had a diagnosis of TS based on karyotype testing and attended at least one clinic visit between February 1, 2015 and July 1, 2018. Data were collected from electronic medical records and included information on patients’ medical conditions, results of screening and blood tests and clinical measurements. Prevalence of diseases was determined for the whole cohort and stratified by age, 40 years of age at clinic visit. The mean age at diagnosis was 11.4 years. The mean height of was 146.8cm (+/-8.06) and the mean BMI was 27.1 (+/-6.24). The majority of patients (84.4%) were on hormone therapy, with the most common type being the oral contraceptive pill (47.6%). Regarding endocrine conditions, 24.5% had hypothyroidism, 16% had dysglycemia (either diabetes or pre-diabetes), and 27.9% had decreased bone mass (either osteoporosis, osteopenia or low bone density). The prevalence of hypothyroidism and dysglycemia were significantly higher among older women (hypothyroidism 36.7% age ≥ 40 vs. 17.8% age < 40, p=0.018; dysglycemia 24.5% age ≥ 40 vs. 5.5% age 40 years had a higher prevalence of hearing impairment (59.1% age > 40 years vs. 28.8% age < 40 years, p=0.0008), while the prevalence of cardiac, renal abnormalities and celiac disease was similar between age groups. Conclusions: The results of this study indicate a high prevalence of medical and gynecological conditions in women with TS, especially those > 40 years of age. This cohort is unique given the older age of our patients as well as the high burden of comorbid disease that we identified. Our study further underscores the importance of multidisciplinary adult TS clinics for monitoring and screening women with TS for comorbidities throughout adulthood.
