This study aims to explore the long-term endocrine and gonadal effects of chemotherapy and radiotherapy in female acute lymphoblastic leukemia (ALL) patients. A cohort study included girls diagnosed with ALL and treated between 2000 and 2020. Patients with at least 2 years elapsed since treatment completion were included. Endocrinological evaluations included anthropometric measures and pubertal status, as well as fasting insulin, glucose, lipid levels, and hormone assessments for adrenal, and thyroid functions. Reproductive functions were evaluated based on gonadotropin, estradiol, and anti-Müllerian hormone (AMH) levels. A total of 51 female patients were included. At the time of study participation, the mean age was 14.7 years, and the mean time since treatment completion was 9.4 years. At least one endocrine disorder was present in 39.2
Background/Objectives: Bedtime snacks are frequently used in youth with type 1 diabetes (T1D) to reduce nocturnal hypoglycemia risk; however, the optimal macronutrient composition remains uncertain, particularly in those treated with multiple daily injections (MDI). This randomized crossover study evaluated whether standardized whole-food bedtime snacks with different macronutrient profiles yield distinct overnight continuous glucose monitoring (CGM) patterns. Methods: Twelve children and adolescents with T1D using glargine/lispro-based MDI completed four bedtime snack protocols: carbohydrate-only (CHO), carbohydrate-plus-protein (CHO + PRO), carbohydrate-plus-fat (CHO + FAT), and carbohydrate-plus-fiber (CHO + FIB). Each snack was consumed for three consecutive nights at 21:00 without additional bolus insulin. Blinded CGM data were analyzed for 21:00–09:00 and for predefined postprandial intervals. Because no a priori sample size calculation was performed, the study was conducted as an exploratory pilot trial. Nights per snack were averaged before within-subject comparisons. Results: Overnight time in range (TIR; 70–180 mg/dL) varied across protocols (p = 0.014), with the highest TIR following CHO + PRO (85.8% ± 12.1%) and the lowest following CHO + FAT (70.9% ± 19.1%); however, adjusted whole-night pairwise comparisons were not statistically significant. Differences were more pronounced during the first 6 h following snack consumption, when CHO + PRO was associated with higher TIR than CHO + FAT (91.2% ± 7.6% vs. 71.4% ± 20.8%; adjusted p = 0.011). Moreover, CHO + PRO was associated with lower peak-to-nadir glucose amplitude than CHO + FAT (88.1 ± 24.9 vs. 123.9 ± 36.5 mg/dL; adjusted p = 0.041). Hypoglycemic and hyperglycemic event rates did not significantly differ across protocols. Conclusions: In children and adolescents with T1D using MDI, bedtime snack composition was associated with differences in early nocturnal glycemic stability. CHO + PRO demonstrated higher early night TIR and lower glucose amplitude than CHO + FAT; however, event-based safety outcomes did not significantly differ. Because only two pairwise comparisons remained significant after correction for multiple testing and the four snacks were not matched for energy content, these findings should be regarded as preliminary and hypothesis-generating; in particular, they do not demonstrate that any snack composition protects against nocturnal hypoglycemia. Confirmation is required in larger, adequately powered studies that include energy-matched snacks and a no-snack control condition.
Survivors of childhood acute lymphoblastic leukemia (ALL) are at risk for long-term endocrine and gonadal dysfunction. While several studies have explored these risks in heterogeneous cancer survivor groups, data specific to ALL survivors remain limited. Herein, we aimed to evaluate late endocrine and gonadal effects in a homogeneous cohort of male childhood ALL survivors classified by risk groups, and to assess the predictive value of serum follicle-stimulating hormone (FSH) and anti-Müllerian hormone (AMH) levels for semen analysis outcomes. This cohort study included male survivors of childhood ALL treated between 2000 and 2020, classified as standard, intermediate, or high risk. Endocrine parameters, reproductive hormones, and semen analyses were evaluated. Fifty-four survivors (mean age 17.5 ± 5.9 years) were included. Endocrine disorders were present in 40.7
Eating disorders are increasingly prevalent during adolescence, a critical developmental stage, and there is a pressing need for concise, yet robust assessment tools tailored for this age group. This study evaluated the psychometric properties of the Turkish version of the Eating Disorder Examination Questionnaire-13 (EDE-Q-13) among healthy adolescents. A total of 223 participants aged 10–17 years were recruited from Istanbul University-Cerrahpaşa, Faculty of Medicine. Internal consistency, test–retest reliability, and construct validity were examined through Cronbach’s alpha, McDonald’s omega, Composite Reliability (CR), Average Variance Extracted (AVE), confirmatory factor analysis (CFA), and correlations with the Eating Attitudes Test-26 (EAT-26) and the Body Appreciation Scale-2 (BAS-2). The total scale showed high internal consistency (α = 0.86, ω = 0.85), with subscale reliabilities ranging from acceptable to good (α = 0.60–0.87). CFA supported the original five-factor structure, yielding satisfactory model fit indices (CMIN/df = 1.58, RMSEA = 0.05, CFI = 0.97, TLI = 0.97). Test–retest reliability over a 15-day interval demonstrated strong temporal stability (r = 0.82; ICC = 0.795–0.886). Significant positive correlations with EAT-26 and negative correlations with BAS-2 confirmed convergent and discriminant validity. These findings indicate that the Turkish EDE-Q-13 is a valid, reliable, and efficient measure for assessing eating disorder psychopathology in healthy adolescents. Its brevity enhances practicality for both clinical and epidemiological research, though future validation in clinical populations is recommended. Eating disorders are becoming more common among teenagers, and early detection is very important for effective treatment. However, many existing questionnaires are too long or not designed for young people. This study tested a short and easy-to-use tool called the Eating Disorder Examination Questionnaire-13 (EDE-Q-13) in Turkish adolescents. A total of 223 participants aged 10 to 17 years took part in the study at Istanbul University-Cerrahpaşa. Researchers checked how reliable and accurate the questionnaire is by looking at how consistent the answers were whether the results stayed stable over time, and whether the questions measured what they were supposed to measure. The results showed that the Turkish EDE-Q-13 is both valid and reliable. It worked well in measuring eating disorder symptoms and related attitudes toward food and body image. Because it is brief and scientifically sound, the EDE-Q-13 can be a useful tool for researchers, psychologists, and clinicians working with adolescents.
Cystic fibrosis (CF) is a chronic genetic disorder characterized by pancreatic insufficiency and lung disease. Advancements in highly effective modulator therapies (HEMTs) have improved life expectancy, shifting the focus to endocrine comorbidities, such as CF-related diabetes (CFRD) and bone disease (CFRBD). Therefore, current guidelines recommend routine screening for diabetes and osteoporosis in people with cystic fibrosis (PwCF) starting from age of 10 years. Increased risk of osteoporosis has been shown in type 1 and type 2 diabetes; however, there are limited studies evaluating the impact of glucose metabolism disorders on osteoporosis in children with cystic fibrosis. Therefore, this study investigates the impact of glucose metabolism disorders on PwCF. This cross-sectional retrospective study included 81 PwCF, aged between 10 and 21 years, who were screened routinely for diabetes and bone metabolism between 2019 and 2024. Data on demographics, CFTR variants, glucose metabolism, and biochemical bone parameters, including calcium, phosphorus, ALP, PTH, vitamin D levels with bone mineral density (BMD) of L1-L4 lumber spine were analyzed. Cases were categorized as normal, indeterminate, impaired glucose tolerance (IGT), or CFRD based on OGTT. Statistical analyses were conducted to determine factors affecting BMD, including pairwise comparison and multivariate regression analysis. Of the 81 cases, 55 (67.9
Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplasms, primarily driven by mutations in the PRKAR1A gene. This study explores the clinical heterogeneity in CNC patients, with a focus on adrenal and extra adrenal involvement and its impact on patient outcomes. We present three pediatric cases with unique clinical manifestations. Case 1: A 12-year-old female with ACTH-independent cyclic Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). The patient's condition progressed, leading to complications such as obesity, depression, and short stature, ultimately requiring bilateral adrenalectomy. Case 2: A 9-year-old male presented with an intranasal osteochondromyxoma and a large cell calcifying sertoli cell tumor. In the followup he developed hypocortisolism secondary to ACTH deficiency, with further complications including central precocious puberty and a growth hormone-secreting pituitary adenoma. Case 3: A 12-year-old female with adrenal insufficiency due to ACTH deficiency, complicated by a pituitary adenoma and a recurrent cardiac myxoma. Over time, the patient developed ACTH-independent Cushing syndrome secondary to PPNAD, necessitating bilateral adrenalectomy. Multiple fusiform aneurysms were also discovered after the recurrence of atrial myxoma. All cases highlight the absence of a consistent genotype-phenotype correlation in CNC, emphasizing the need for individualized management strategies. The findings underscore the complexity of diagnosing and treating CNC, particularly in pediatric populations, and call for further research into the underlying molecular mechanisms to develop more targeted therapies.
Abstract Background Achieving optimal glycemic control in children with type 1 diabetes(T1D) is challenging. Insulin glargine U300 offers a flatter pharmacodynamic profile and longer duration of action than glargine U100, but pediatric real-world data are limited. This study evaluated the effects of switching from U100 to U300 on glycemic control, body composition, pain, and quality of life. Methods This prospective, single-center observational study included children aged 6–20 years with T1D who switched from U100 to U300. Assessments were performed at baseline, week12, and week24. The primary endpoint was change in HbA1c; secondary endpoints included insulin dose(U/kg), hypoglycemia frequency, 3:00 a.m. glucose, lipid parameters, body composition, Numeric Rating Scale (NRS) for pain, and Pediatric Quality of Life Inventory (PedsQL) scores. Participants were stratified by baseline HbA1c (< 9% vs. ≥ 9%). Results Sixty-three participants (mean age 14.98 ± 3.53 years) were analyzed. Basal insulin dose increased significantly from 0.48 ± 0.12 U/kg/day on Gla-100 to 0.51 ± 0.14 and 0.51 ± 0.15 U/kg/day at weeks 12 and 24, respectively (p < 0.001). HbA1c levels demonstrated a small but statistically significant change during follow-up (p = 0.048). (8.20 (5.9–14.8) %→ 8.00 (6.0–12.2) %→ 8.25 (5.7–12.6) %). Participants with HbA1c ≥ 9% showed a significant reduction(ΔHbA1c − 0.50 (− 3.80–1.00) %; p = 0.014), while those < 9% had a mild increase(ΔHbA1c 0.10 (− 0.90–5.30) %). Night-time (03:00 AM) blood glucose levels decreased significantly across the three time points (p = 0.007), more prominently in the higher HbA1c group. NRS improved markedly (p < 0.001), though PedsQL scores were unchanged. Conclusions Switching from U100 to U300 maintained glycemic control with modest insulin dose increases. Greater benefits were observed in patients with higher baseline HbA1c, alongside reduced nocturnal glucose and injection pain.U300 appears to enhance comfort and nighttime stability in pediatric T1D. Clinical trial number Not applicable.
AIM:Subclinical myocardial dysfunction may occur early in children and adolescents with type 1 diabetes mellitus (T1DM), despite preserved conventional cardiac function. However, the effect of insulin delivery modality on myocardial mechanics remains unclear. This study aimed to compare conventional echocardiographic and three-dimensional speckle-tracking echocardiographic (3D-STE) findings between pediatric patients receiving insulin pump therapy (IPT) and those receiving multiple daily insulin injections therapy (MDIIT). MATERIAL AND METHODS:In this cross-sectional study, 56 children and adolescents with T1DM receiving either IPT (n = 27) or MDIIT (n = 29) were enrolled. All participants underwent conventional echocardiography, tissue-Doppler imaging, three-dimensional echocardiography, and 3D-STE. Global and regional strain parameters derived from 3D-STE were analyzed and compared between treatment groups. RESULTS:The two groups were comparable with respect to age, sex, anthropometric characteristics, and glycated hemoglobin levels (all p > 0.05). Diabetes duration and treatment duration were significantly longer in the MDIIT group (p = 0.022 and p < 0.001, respectively). No significant differences were observed in left ventricular ejection fraction, indexed ventricular volumes, or global strain parameters (longitudinal, circumferential, and radial strain) (all p > 0.05). Several regional strain parameters differed between groups, with more favorable anteroseptal circumferential and radial strain values observed in patients receiving IPT (all p < 0.05). The E'/A' ratio was higher in the IPT group (p = 0.021). CONCLUSION:Children and adolescents with T1DM receiving IPT and MDIIT demonstrated comparable conventional echocardiographic and global 3D-STE findings. However, differences in several regional strain indices suggest the presence of subtle myocardial abnormalities in patients receiving MDIIT despite preserved global ventricular function. Further prospective studies are warranted to clarify the clinical significance of these findings.
Children with idiopathic short stature (ISS) have reduced height potential without identifiable endocrine or systemic causes. Selecting appropriate candidates for recombinant human growth hormone (rhGH) therapy remains challenging. The aim of this study was to describe near-final height (NFH) outcomes and to identify clinical predictors of growth response in children with ISS who were selected for rhGH therapy based on a positive IGF-1 generation test (IGFGT). In this multicenter retrospective study (2009–2018) across four centers in Türkiye, patients diagnosed with ISS, baseline IGF-1 < 0 SDS, and ≥ 20
Background: Autoimmune thyroid diseases (AITD), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common causes of acquired thyroid dysfunction in children and adolescents. Although thyroid and renal functions are closely interrelated, limited data exist on renal involvement in pediatric AITD. Objective: This study aimed to investigate the prevalence of microalbuminuria in children and adolescents with HT and GD, and to explore potential associations with thyroid autoimmunity and functional status. Material and Methods: A cross-sectional study was conducted involving 64 pediatric patients with AITD (HT: n=29; GD: n=35) and 34 age- and sex-matched healthy controls. First-morning spot urine specimens were analyzed for microalbuminuria using urinary albumin-to-creatinine ratio (UACR). Microalbuminuria was defined as UACR of 30 - 300 mg/g (categorized as ≥30 mg/g). Results: A total of 98 participants (72 girls, 88 pubertal) were included. The prevalence of microalbuminuria was significantly higher in the HT group (17.2%) compared to GD (2.9%) and healthy controls (2.9%) (P = 0.042). However, no significant differences were observed in continuous UACR values across groups (P = 0.779). No correlation was found between UACR and thyroid autoantibody levels or thyroid functional status (all P > 0.05). Conclusion: This study is among the first to report an increased prevalence of microalbuminuria in children and adolescents with HT. While these findings suggest a potential link between AITD and renal alterations, larger longitudinal studies are warranted to determine whether microalbuminuria represents a transient phenomenon or an early marker of renal involvement in this population.
Adolescents with Type 1 diabetes are at increased risk of eating disorders, which have been associated with suboptimal metabolic control and an increased risk of complications. Reliable and culturally adapted screening tools are essential for early identification. However, the parent-reported version of the Diabetes Eating Problem Survey–Revised (DEPS-R) has not yet been validated in Turkish; therefore, this study aimed to evaluate its validity and reliability in adolescents aged 10–17 years years with type 1 diabetes. This methodological validation study included 96 adolescents (45 boys, 51 girls) aged 10–17 years with Type 1 diabetes and their parents. Linguistic and cultural adaptation procedures were conducted in accordance with standard cross-cultural validation guidelines. Parents completed the parent-reported DEPS-R and the Problem Areas in Diabetes–Parents of Teens (P-PAID-T). Adolescents completed the self-reported DEPS-R. Construct validity was assessed using correlation analyses. Exploratory and confirmatory factor analyses were performed to evaluate structural validity. Internal consistency was assessed using Cronbach’s alpha, and test–retest reliability was examined using intraclass correlation coefficients (ICC). The parent-reported DEPS-R demonstrated good internal consistency (Cronbach’s α = 0.852; McDonald’s ω = 0.851) and good test–retest reliability (ICC = 0.83), with a strong correlation between the two administrations (r = 0.89). Exploratory and confirmatory factor analyses supported a single-factor structure and demonstrated with acceptable model fit (χ²/df = 1.629; RMSEA = 0.080; CFI = 0.874; TLI = 0.848). Parent-reported DEPS-R scores were correlated with self-reported DEPS-R scores (r = 0.506, p < 0.001) and P-PAID-T scores (r = 0.458, p < 0.001), supporting construct validity. A positive correlation was also observed between duration of diabetes and DEPS-R scores (r = 0.223, p = 0.029). No significant associations were observed between DEPS-R scores and metabolic indicators, including HbA1c, ketoacidosis episodes, or diabetes-related hospital visits. The Turkish parent-reported DEPS-R is a valid and reliable instrument for screening disordered eating behaviors in adolescents with Type 1 diabetes. Its use in both clinical and research settings may facilitate early detection and improve understanding of the relationship between eating behaviors and metabolic outcomes in this high-risk population. Disordered eating has been reported to be more common among adolescents with type 1 diabetes than among their healthy peers. In this group, disordered eating may lead to poorer metabolic control and make diabetes management more difficult. However, questionnaires completed by adolescents may not always fully reflect actual behaviors, as young people may underreport certain behaviors or may not always be fully aware of them. For this reason, parent-reported assessments such as the parent reported Diabetes Eating Problem Survey–Revised (DEPS-R) may provide an additional and useful perspective for identifying eating-related problems in adolescents with type 1 diabetes. In this study, we evaluated a parent-reported version of the DEPS-R in Turkish families of adolescents with type 1 diabetes. Our findings suggest that this parent-reported version is a reliable tool for identifying possible eating-related problems. Using parent-reported assessments of disordered eating may help healthcare professionals recognize problems earlier and provide timely support for adolescents with type 1 diabetes and their families.
OBJECTIVE:This study aimed to evaluate the impact of levothyroxine supplementation on neurodevelopmental outcomes in infants with transient hypothyroxinemia of prematurity (THOP). SUBJECTS AND METHODS:In this retrospective observational study, infants born at < 34 weeks of gestation were categorized into three groups: THOP treated with levothyroxine, untreated THOP, and non-hypothyroxinemic controls. Neurodevelopmental outcomes were assessed at 12-72 months of corrected age using the Denver Developmental Screening Test II (DDST-II). RESULTS:Fifty-four infants (40.7% female) with a median gestational age (GA) of 31.0 (28.6-33.0) weeks and mean birth weight of 1414 ± 466 g were included. Infants treated for THOP had significantly lower GA compared with controls (p = 0.037) and lower initial FT4 levels (p < 0.001), while TSH levels were similar (p = 0.581). Prematurity-related morbidities were more frequent in the treated THOP group. No association was observed between DDST-II results and GA, birth weight, or prematurity-related morbidities. The DDST-II results did not differ significantly among treated THOP, untreated THOP, and controls (p = 0.484). CONCLUSION:Levothyroxine supplementation in infants with THOP was not associated with neurodevelopmental outcomes compared with untreated infants with THOP or non-hypothyroxinemic controls. In this cohort, DDST-II results were not significantly associated with GA, birth weight, or major prematurity-related morbidities, suggesting that routine levothyroxine supplementation may not confer a measurable neurodevelopmental benefit. Given the observational design and baseline clinical differences between groups, these findings should be interpreted cautiously. Further multicenter studies with larger cohorts and comprehensive follow-up are needed to clarify whether specific high-risk subgroups may benefit from treatment..
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.