A single-center retrospective cohort study followed 31 Turner syndrome patients from 1996 to 2021 to examine growth hormone (GH) initiation timing, final height, comorbidity burden, and transition to adult care. Patients were grouped by GH initiation age: ≤6 years, 6-12 years, and ≥12 years. The primary outcome was final height, with secondary outcomes including pubertal development, comorbidity prevalence, and transition patterns.
Patients initiating GH at ≤6 years achieved higher final heights (approximately 159-163 cm) compared with those initiating at ≥12 years (approximately 140-156 cm), showing a trend toward association with improved final height SDS for earlier initiation. The cohort had a karyotype distribution of 32% classical 45,X and 68% mosaic forms. High rates of multisystem comorbidities were documented: renal anomalies (41%), cardiovascular abnormalities (35%), hearing impairment (34%), ophthalmologic disorders (32%), autoimmune disease (29%), and metabolic disorders (25%).
Among the 13 adult patients who transitioned to adult care, only 1 maintained regular endocrinology follow-up, and none completed recommended aortic surveillance, highlighting major gaps in transition pathways. Safety and tolerability data for GH therapy were not reported. The study's retrospective design, small sample size, and lack of reported statistical measures (p-values, confidence intervals, effect sizes) limit causal inference and generalizability.
For practice, the findings suggest that earlier GH initiation may be associated with improved height outcomes in Turner syndrome, aligning with some international data. However, the observed trend requires prospective validation. The high comorbidity burden and documented failures in adult care transition underscore the clinical importance of comprehensive, lifelong multidisciplinary management and structured transition programs to address these systemic gaps.
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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.