Table 1_Turner syndrome across the lifespan: a 25-year single-center experience from neonatal diagnosis to adult outcomes.docx

BackgroundTurner syndrome (TS) is a lifelong chromosomal disorder characterized by short stature, gonadal dysgenesis, and multisystem comorbidities. This study presents a 25-year singlecenter experience, evaluating growth outcomes—including the impact of growth hormone (GH) initiation age—pubertal development, comorbidity burden, and transition patterns from pediatric to adult care.
MethodsThis retrospective cohort study included 31 TS patients followed between 1996 and 2021. Clinical, anthropometric, and laboratory data at diagnosis, during follow-up, and at the most recent visit were collected using structured forms. Karyotype, GH treatment history, final height, pubertal status, systemic comorbidities, and adult follow-up outcomes were analyzed. Adult TS patients were re-evaluated using a standardized adult TS assessment form. Final height outcomes were compared across GH initiation age groups (≤6 y, 6–12 y, ≥12 y). Continuous variables were assessed for normality and compared using ANOVA or Kruskal–Wallis tests, as appropriate. Multivariable linear regression analysis was performed to evaluate independent predictors of final height standard deviation score (SDS). Categorical variables were summarized descriptively.
ResultsThe cohort included 31 patients (current age range: 1.5–38 years); 32% had classical 45, X and 68% mosaic karyotypes. Twenty-three patients received GH therapy, with a mean initiation age of 7.4 ± 4.1 years. Mean final height was 155.7 ± 6.8 cm. Patients who initiated GH therapy at ≤6 years achieved higher final heights (approximately 159–163 cm) compared with those initiating at ≥12 years (approximately 140–156 cm). In multivariable analysis, earlier GH initiation showed a trend toward association with improved final height SDS. Multisystem comorbidities were frequent and, in descending order of prevalence, included renal anomalies (41%), cardiovascular abnormalities (35%), hearing impairment (34%), ophthalmologic disorders (32%), autoimmune disease (29%), and metabolic disorders (25%). Among adult patients who transitioned to adult care (n = 13), only one maintained regular endocrinology follow-up, and none completed recommended aortic surveillance.
ConclusionsEarly GH initiation yields final height outcomes comparable to the most favorable international cohorts. Turner syndrome requires lifelong, multidisciplinary follow-up, yet major gaps persist during transition to adult care. Strengthening structured transition pathways is essential to optimize long-term outcomes.