Background: Transition describes preparing children with chronic illnesses for adult healthcare and gradually transferring their care, starting late adolescence. Joint meetings and visits are recommended during this process. This study examines an 8-year transition experience in our clinic, focusing on the differences between adult and pediatric endocrinology practices and the rates of loss to follow-up in specific disease groups. Methods: Three hundred thirty-five patients evaluated in transition meetings were included. The frequency of visits 1 year before transition, during the first and second years after transition, the number of patients lost to follow-up and disease groups were analyzed. Results: Among the patients discussed in the transition meetings, 56.3% participated in joint visits. Post-transition, 82.5% of patients continued their follow-up care, while 17.5% were lost to follow-up. There was a statistically significant difference in the number of visits before and after the first year of transition (P = 0.000). Conclusion: To increase adaptation during the transition, informing patients and families about the process at every visit after late adolescence is beneficial. Moreover, scheduling joint visits on flexible dates and increasing the number of joint visits per patient could substantially enhance patient participation and follow-up rates. We observed that patient follow-up frequency was higher in pediatric endocrinology due to differences in pediatric and internal medicine practices.

Objectives: Silver–Russell syndrome (SRS) is a rare imprinting disorder characterized by intrauterine and postnatal growth retardation. Its genetic etiology shows a heterogeneous distribution. This study aimed to evaluate the clinical characteristics of children diagnosed with SRS, their response to growth hormone therapy, and compare the data of genetically confirmed and clinically diagnosed SRS cases. Methods: A total of 69 patients were included in the study. Genetically confirmed cases were considered Group 1, and cases with a clinical diagnosis according to the Netchine–Harbison scoring system were considered Group 2. The anthropometric data of the patients at birth, at the time of diagnosis, before and during the first year of growth hormone (GH) treatment, final height-SDS values of patients who reached final height, and accompanying comorbidities were recorded. Results: In Group 1, 75.8 % had hypomethylation in the ICR1 region, 13.7 % had maternal uniparental disomy 7, 6.8 % had an IGF-2 mutation, and 3 % had a duplication in the 11p15 region. Central precocious puberty, gastroenterological, and neurologic comorbidities were found to be more frequent than those from other systems. Final height-SDS was −2.32 ± 1.57 (n=5) in Group 1 and −2.41 ± 0.86 (n=5) in Group 2. Conclusions: 11p15 LOM was the most common genetic disorder in children with SRS in our case series. Gastroenterological problems and neurologic complications were observed frequently in these cases. Central precocious puberty was more commonly observed compared to the general population. The duration of treatment was the most critical factor in the success of GH therapy.

Background and Objectives: The transition from pediatric to adult endocrine care represents a vulnerable period for patients with congenital adrenal hyperplasia (CAH), given the risk of loss to follow-up and the evolving physiological and healthcare requirements associated with the transition to adulthood. This study aimed to compare structured and non-structured transition pathways in patients with CAH, focusing on the continuity of adult endocrine care and disease-specific hormonal, clinical, and treatment-related outcomes. Materials and Methods: This single-center, retrospective, observational study included patients with CAH who transitioned from pediatric to adult endocrine care and met predefined pediatric and adult follow-up eligibility criteria. Patients were classified according to whether the transition occurred through a structured multidisciplinary transition program or without participation in the structured program. Outcomes were evaluated during predefined observation periods before and after transfer and included continuity-of-care measures, 17-hydroxyprogesterone (17-OHP) and androstenedione concentrations, achievement of predefined hormonal targets, body mass index (BMI), glucocorticoid and mineralocorticoid treatment, and CAH-related clinical outcomes. Results: Among 67 patients assessed for eligibility, 29 were included: 20 in the structured transition group and 9 in the non-structured transition group. Overall, 62.1% of the study population was female. No significant between-group differences were observed in continuity-of-care measures, including the pediatric-to-adult care gap, first-year adult visit frequency, maximum visit-free interval, first-year loss to follow-up, or active adult endocrine follow-up at the study cutoff. Pre-transition and post-transfer 17-OHP and androstenedione concentrations and achievement of predefined hormonal targets did not differ significantly between groups. No significant longitudinal changes in hormonal outcomes, BMI, or body-surface-area-adjusted hydrocortisone-equivalent glucocorticoid doses were observed within either group. At the study cutoff, 85.0% of patients in the structured group and 77.8% in the non-structured group remained under active adult endocrine follow-up. Conclusions: In this small single-center cohort, no significant differences in the continuity of adult endocrine follow-up or disease-specific outcomes were observed between structured and non-structured transition pathways. Most patients remained engaged with adult endocrine care, and hormonal control showed no evident deterioration following transfer in either group. Given the small sample size and high overall retention, these findings should not be interpreted as evidence of equivalence between the two transition approaches.

Background and Objectives: Pediatric-onset metabolic bone diseases, including osteogenesis imperfecta (OI), hypophosphatemic rickets (XLH), hypoparathyroidism, and McCune–Albright syndrome (MAS), require lifelong follow-up because of persistent skeletal fragility, biochemical abnormalities, and functional morbidity extending into adulthood. However, evidence regarding structured transition from pediatric to adult care in these rare disorders remains limited. This study evaluated one-year outcomes of a multidisciplinary transition program for adolescents and young adults with rare metabolic bone diseases. Materials and Methods: This retrospective cohort study included 20 patients aged ≥17 years who underwent evaluation through a structured transition pathway consisting of multidisciplinary team meetings, a joint pediatric–adult transition clinic, and subsequent follow-up in adult endocrinology. Demographic, clinical, treatment, and transition-related data were extracted from medical records. The primary outcome was successful transition, defined as at least one adult endocrinology visit within 12 months. Secondary outcomes included attendance at the transition clinic, follow-up continuity, and treatment modifications. Results: All patients underwent multidisciplinary evaluation, and 85% attended the joint transition clinic. Successful transfer to adult endocrinology was achieved in 90% (18/20), while regular follow-up during the first year was maintained in 75%. Retention was highest in patients with OI, MAS, XLH, vitamin D-dependent rickets, and DiGeorge syndrome (100%). Greater variability was observed in postoperative and primary hypoparathyroidism. Treatment adjustments were required in 40% of patients, including optimization of phosphate/calcitriol replacement and reassessment of bisphosphonate or burosumab therapy. Three patients were lost to follow-up. No acute transition-related complications were observed. Conclusions: In this small exploratory cohort, implementation of a structured multidisciplinary transition pathway was feasible and was accompanied by high transfer and one-year retention rates. Observed differences across diagnostic subgroups should be interpreted cautiously, and larger multicenter comparative studies are needed to evaluate the effectiveness of structured transition frameworks.