Turner Syndrome: Pitfalls of Transition from Paediatric to Adult Health Care.

Abstract

Turner Syndrome (TS) is a rare condition in females, characterized by complete or partial loss of one X chromosome, often in mosaic karyotypes. It is associated with a wide spectrum of health problems across the age span, which requires particular attention during the transition from childhood to adult age. The aim of this study was to assess in a consecutive sample of TS patients the clinical, biochemical, and instrumental changes during the first period after the transition from paediatric to adult care. Sixteen patients with TS were enrolled: 9 with the karyotype 45, X0 and 7 with a mosaic karyotype. Patients' clinical information was obtained from the management software of the Hospital of Padua. The median age for transition was 18 years. All patients received an appointment in adult clinics after the last visit with the paediatrician, however, 9 patients dropped out of followup by delaying the appointment by 1-2 years. After an average follow-up of 54±36.7 months, all patients presented a significant reduction in the values of insulinemia, HOMA index and HbA1c. Lumbar and proximal femur Z-score values improved, and the prevalence of overweight was reduced among patients on sex hormone replacement therapy for at least four years. This study confirms the necessity of a structured plan from paediatric to adult care for TS patients to avoid the risk of dropping out of the transition and future follow-up. A periodic monitoring protocol may guarantee an early detection and an effective correction of health complications associated with TS.