Turner syndrome across the lifespan: a 25-year single-center experience from neonatal diagnosis to adult outcomes

Background: Turner 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. Methods: This 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. Results: The 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. Conclusions: Early 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.