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

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

Volume: 24

Author(s): Alice Sorgato, Isabella Peron, Jacopo Manso, Valentina Camozzi, Filippo Ceccato, Chiara Mozzato, Laura Guazzarotti, Carla Scaroni and Chiara Sabbadin*

Affiliation:

• Endocrine Unit - Department of Medicine, University Hospital of Padua, Padua, Italy

Abstract: Background: 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.

Objective: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Cite this article as:

Sorgato Alice, Peron Isabella, Manso Jacopo, Camozzi Valentina, Ceccato Filippo, Mozzato Chiara, Guazzarotti Laura, Scaroni Carla and Sabbadin Chiara*, Turner Syndrome: Pitfalls of Transition from Paediatric to Adult Health Care, Endocrine, Metabolic & Immune Disorders - Drug Targets 2024; 24 () . https://dx.doi.org/10.2174/0118715303321348240430060454