Objective: To characterize the medical care of a large cohort of girls with Turner syndrome with a focus on changes in management since establishment of international consensus guidelines in 2007.

Methods: We reviewed medical records of patients followed up for Turner syndrome between 2000 and 2010.

Results: A total of 128 girls aged 13.2 ± 0.5 years were identified. Average age at diagnosis was 4.1 ± 5.1 years. Overall, medical assessments performed included a hearing test in 56%, thyroid screening in 95%, renal ultrasonography in 100%, and echocardiography in 100%. Before 2007, none of the patients had screening performed for celiac disease, dyslipidemia, or liver dysfunction, and none had routine electrocardiography or cardiac magnetic resonance imaging. Since 2007, 63% were screened for celiac disease, 54% for liver abnormalities, and 38% for dyslipidemia. Electrocardiography was performed in 23%, while cardiac magnetic resonance imaging was performed in 39%. Although conjugated equine oral estrogen was the main mode of estrogen replacement, a significant increase was noted in the use of transdermal estrogen during the past 2 years compared with that observed in the earlier interval (78% vs 10%, respectively).

Conclusions: Although changes in medical practice have occurred since establishment of the international Turner syndrome guidelines, screening for associated comorbidities was deficient in greater than 50% of the patients in our study. This is the first study evaluating medical care in a large cohort of pediatric patients with Turner syndrome, and our findings emphasize the need for continual education of all physicians involved in the care of this population.