Ayşe Derya Buluş

Objective: Changes in sleep duration have been reported to be associated with weight gain. The aim of this study was to assess sleep quality in children with obesity and to investigate the relationship between sleep quality and daily lifestyle activities.Material and Methods: This prospective cross-sectional study included a total of 402 children aged 6–10 years, comprising 201 obese and 201 normal-weight children, who were referred to the Paediatric Endocrinology Clinic between July 2024 and October 2024. Sleep quality was measured using the Child Sleep Habits Questionnaire (CSHQ) in both the obese and control groups. Sociodemographic data, including daily screen time, caffeine consumption, academic performance and weekly exercise duration, were recorded.Results: Obese children had a sleep-time resistance score of 7.80±2.10, which was significantly higher than that of the control group (p

Aim: Precocious puberty (PP) is increasingly common and needs early recognition and referral in primary care. This study evaluated family physicians’ knowledge, awareness, and attitudes regarding PP, including diagnosis, etiology, endocrine disruptors, diagnostic methods, and treatment, as well as their association with clinical training.Material and Methods: This cross-sectional, survey-based study included 157 family physicians (residents and specialists) working in primary care. A structured questionnaire consisting of 17 multiple-choice questions was developed based on current literature and expert review. The survey assessed physicians’ sociodemographic characteristics, knowledge of PP definition and age thresholds, recognition of clinical signs, awareness of etiological and environmental risk factors, use of Tanner staging, diagnostic approaches, referral practices, and treatment perspectives.Results: A total of 157 physicians were included; 68.2% were residents and 31.8% were specialists. Physicians completing both pediatrics and pediatric endocrinology rotations more often identified the correct PP age limits for girls and boys (p<0.001 and p=0.022) and had higher awareness of clinical signs, causes, Tanner staging, referral, test ordering, and the effectiveness of gonadotropin-releasing hormone analog (GnRHa) therapy (p≤0.006). Compared with residents, specialists more often referred suspected cases to pediatric endocrinology and recognized GnRHa effectiveness, with differences most evident in rotation-based analyses.Conclusion: Although family physicians possess basic knowledge of PP, substantial differences exist in awareness of male pubertal findings, endocrine disruptors, and diagnostic and treatment approaches. Structured training in pediatrics and pediatric endocrinology may be associated with greater awareness and support early recognition, appropriate referral, and preventive care in primary healthcare settings.

Short stature is clinically and genetically heterogeneous, and defects in the extracellular matrix of growth plate cartilage represent a key disease mechanism. ACAN encodes aggrecan, the major proteoglycan of the growth plate cartilage extracellular matrix. Heterozygous ACAN variants are a recognized cause of familial short stature, often associated with advanced bone age and early growth cessation, yet they show a broad phenotypic spectrum. We aimed to delineate the clinical and molecular spectrum of ACAN ‐related short stature in a Turkish cohort. We retrospectively reviewed 47 individuals from 20 unrelated families with short stature (height ≤ −2 SDS) or predicted adult height < −2 SDS. Anthropometric data, dysmorphic and musculoskeletal findings, radiologic assessments, and molecular genetic results were analyzed. Among 47 individuals (20 females, 27 males), 59.6% were children. Common clinical features included a high forehead, upslanted palpebral fissures, a depressed nasal bridge, low‐set anteverted ears, mild pectus deformity, and brachydactyly. Osteochondritis dissecans, early‐onset osteoarthritis, and advanced bone age were identified in 6.5%, 8.7%, and 28.6% of individuals, respectively. Vertebral findings included scoliosis (19.6%), increased lumbar lordosis (13%), and vertebral endplate changes (10.9%). Genetic testing revealed 15 heterozygous ACAN variants (2 previously reported in ClinVar; 13 novel): 6 nonsense, 2 splice‐site, 5 frameshift, and 2 missense. Overall, 45 patients carried pathogenic/likely pathogenic variants (14 variants), and 2 carried VUS (1 variant). ACAN ‐related short stature represents an important subset of familial short stature. Skeletal and musculoskeletal findings may aid diagnosis, but advanced bone age is not consistent and bone age is often appropriate for chronological age.

Objective: This study aimed to evaluate the metabolic and hormonal effects of anti-seizure medications (ASMs) in children with epilepsy by comparing serum levels of vitamin D, calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), vitamin B12, folate, thyroid-stimulating hormone (TSH), and free thyroxine (fT4) between ASM-treated patients and healthy controls. A secondary aim was to investigate differences between patients treated with valproate (VPA) and those treated with levetiracetam (LEV). Materials and Methods: A total of 106 pediatric epilepsy patients undergoing ASM therapy were included in the study, with 93 on monotherapy and 13 on polytherapy for at least six months. Additionally, 80 age- and sex-matched healthy controls were included. Serum biochemical parameters were analyzed retrospectively. Subgroup analyses compared patients on VPA and LEV monotherapy. Statistical comparisons and correlation analyses assessed relationships between drug exposure and biochemical values. Results: Vitamin D levels were significantly lower in ASM-treated patients compared to controls (p<0.001). TSH levels were higher in the VPA group than in the LEV group (p<0.001), although there were no significant differences in thyroid hormone levels between ASM-treated patients and the healthy control group overall. No significant differences were observed in calcium, phosphorus, ALP, vitamin B12, or folate levels between the groups. The duration of ASM use was not correlated with any of the biochemical parameters. Conclusion: Vitamin D deficiency and changes in thyroid function may occur in children treated with ASMs, especially VPA. However, vitamin B12 and folate levels tend to stay stable. Given the ongoing fluctuations in vitamin D and thyroid hormone levels, more frequent monitoring of these parameters may be warranted in pediatric epilepsy patients on ASM therapy. In contrast, less frequent assessment of vitamin B12 and folate may be enough unless there are clinical reasons to test further. More prospective studies are needed to determine the best monitoring approaches.

Amaç: Coffin–Lowry sendromu (CLS), RPS6KA3 genindeki patojenik değişikliklerin neden olduğu; değişken derecelerde entelektüel yetersizlik, ayırt edici kraniyofasiyal özellikler ve kas-iskelet sistemi anomalileri ile karakterize, nadir görülen X’e bağlı dominant bir nörogelişimsel bozukluktur. Bu çalışmada, dört aileden beş etkilenmiş bireyin (4 kadın, 1 erkek) klinik ve moleküler bulguları, kadın fenotipe odaklanılarak sunulmaktadır. Gereç ve Yöntemler: Akraba olmayan dört aileden beş etkilenmiş birey klinik olarak değerlendirildi. Genetik incelemeler; klinik ekzom dizileme, kromozomal mikrodizin analizi ile doğrulama ve segregasyon amacıyla Sanger dizilemesini içerecek şekilde gerçekleştirildi. İskelet bulgularını değerlendirmek üzere radyografik incelemeler yapıldı.Bulgular: Tüm olgularda değişen şiddette global gelişme geriliği, kraniyofasiyal dismorfik bulgular ve kas-iskelet sistemi anomalileri saptandı. Moleküler testlerde RPS6KA3 geninde daha önce bildirilmemiş bir missense varyant, iki yineleyen (rekürren) varyant ve RPS6KA3 genini de içeren bir kopya sayısı değişikliği belirlendi. Bir bireyde kalıtımın maternal kökenli olduğu gösterilirken, diğer varyantların de novo geliştiği görüldü. Radyografik değerlendirmede spondiler, metafizer veya epifizer displazi saptanmadı. Ayrıca olguların bir kısmında renal, oftalmolojik ve kardiyak anomaliler kaydedilerek CLS ile ilişkili multisistem tutulum daha da desteklendi.Sonuç: Bu olgu serisi, özellikle kadınlarda olmak üzere CLS’nin fenotipik ve genotipik spektrumunu genişletmekte ve doğru tanı için klinik ve moleküler değerlendirmenin bütünleşik kullanımının önemini vurgulamaktadır. Daha önce bildirilen ve yeni RPS6KA3 değişikliklerinin saptanması, genotip–fenotip korelasyonlarının geliştirilmesine yönelik çalışmalara katkı sağlamakta ve CLS’de klinik değişkenliğin daha sistematik biçimde araştırılması gereksiniminin altını çizmektedir.

Objective: This study explores whether GSTM1, GSTT1, and TP53 rs1042522 polymorphisms, key regulators of detoxification and oxidative stress responses, influence obesity risk and related metabolic profiles in children. Materials and Methods: Blood samples from 60 obese children and 60 healthy controls were analyzed. GSTM1 and GSTT1 deletions were assessed via polymerase chain reaction melting curve analysis, and TP53 rs1042522 was genotyped by direct DNA sequencing. Deviations from Hardy–Weinberg expectations and genotype frequencies in controls were evaluated, and the association of genetic variants with obesity, clinical complications, and metabolic parameters was examined. Results: In obese children, GSTM1 and GSTT1 genotype frequencies deviated from Hardy Weinberg expectations and differed from controls, whereas TP53 rs1042522 conformed to expected distributions yet was statistically underpowered. The GSTM1 null genotype increased obesity risk 3.28-fold (95% CI: 1.36-7.93, P < .05). The GSTT1 null genotype conferred a 4.76-fold higher risk (95% CI: 2.08-10.88, P < .001). TP53 rs1042522 showed no association (OR = 1.12, 95% CI: 0.44-2.87). The GSTM1 null carriers had elevated cholesterol, low-density lipoprotein (LDL), and gamma-glutamyl transferase, while TP53 Arg/Arg and Pro/Pro carriers exhibited higher LDL and alanine aminotransferase, respectively. No significant links were observed with insulin resistance or hepatic steatosis. Conclusion: The GSTM1 and GSTT1 null genotypes are significant genetic risk factors for childhood obesity, likely through reduced detoxification capacity and subsequent oxidative stress–related metabolic disruption. These findings highlight the importance of considering detoxification pathways when assessing genetic predisposition to obesity in children.

Background: Only a limited number of studies have investigated the characteristics of pediatric Graves’ disease (GD). These studies include limited number of participants with varying treatment protocols, definition of remission, and follow-up duration. Objective: This study aimed to determine the clinical characteristics, remission and relapse rates of adolescents with GD, focusing on potential predictors of remission at diagnosis in adolescents receiving antithyroid drugs (ATD). Methods: Clinical, laboratory, and radiologic features of 19 patients (F/M:13/6) under 18 years of age, who were followed for GD from 2013 to 2025 at our hospital were retrospectively assessed. Remission was defined as sustained euthyroid state without relapse for at least 12 months after discontinuing ATD. Results: Patients were diagnosed with GD at a median age of 15 years (IQR: 11.6-15.9). 7 (36.8%) presented with palpitation while 3 (15.8%) presented with weight loss. Tachycardia was observed in 9 (47.4%) and hypertension in 1 (5.3%). Goiter was detected in 13 (68.4%) and ophthalmopathy in 8 (42.1%). Thyroid ultrasonography revealed goiter (6.6 SDS, IQR: 3.6-10.3). 18 (94.7%) of patients had findings consistent with thyroiditis and 4 (21.1%) had thyroid nodules. Five patients were solely treated with methimazole (MMI) while 14 received both MMI and a β-blocker. Median initial MMI dose was 0.3 mg/kg/day (0.2–0.4). Median follow-up time was 13.0 months (4.5–96.0). MMI was discontinued after a median of 38 months (20–96) at a median dose of 0.02 mg/kg/day (range, 0.02–0.03) in 8 (42.1%) of patients. GD (or thyrotoxicosis) was relapsed in 5 (62.5%) of pateints after a median of 4 months (3–22). Remission was achieved in 3 (15.7%). It was observed that patients with higher thyroid volume SDS at diagnosis tended to have a higher relapse rate. Definitive treatment methods, including radioiodine ablation (n=2) and total thyroidectomy (n=3), were performed in 26.3%, and papillary thyroid carcinoma was detected in one. Conclusion: ATD is an effective treatment option in adolescents with GD. Thyroid volume at diagnosis may serve as a potential predictor of remission hence further studies are needed to confirm this observation. It should also be noted that thyroid nodules in children with GD may be associated with papillary thyroid carcinoma and therefore thyroid nodules warrant careful evaluation.

Type 1 diabetes mellitus (T1DM) is a common chronic disease in children and adolescents. Diabetic kidney disease (DKD) is one of its most serious microvascular complications. Serum uric acid (SUA) has been associated with an increased risk of DKD. The aim of this study was to evaluate the association between SUA levels and the presence of microalbuminuria, an important and early marker of DKD, in pediatric patients with T1DM. This retrospective study included 138 pediatric patients who were followed up with a diagnosis of T1DM for at least 1 year. Patients were divided into two groups, normoalbuminuric and microalbuminuric, according to the urine albumin/creatinine ratio (uACR) and were also divided into two groups according to SUA levels, < 3.98 mg/dL and ≥ 3.98 mg/ dL. The mean SUA level of 138 patients with T1DM was 3.85 ± 1.0 mg/dL. The mean SUA level was significantly higher in the microalbuminuria group compared to the normoalbuminuria group. ROC curve analysis revealed that mean SUA level at a cut-off of 3.98 mg/dL was associated with the presence of albuminuria, with an AUC of 0.66 (p: 0.008, 95% CI [0.56–0.76]) yielding 63% sensitivity and 65% specificity. The rate of microalbuminuria was found to be 3.06 times significantly higher among patients with SUA level of ≥ 3.98 mg/dL (p = 0.008, OR 3.06, 95% CI [1.31–7.13]). Conclusions: The mean SUA level was significantly higher in the microalbuminuria group and the rate of microalbuminuria is higher in patients with T1DM when SUA was ≥ 3.98 mg/dL. These findings indicate a potential link between elevated SUA levels and early renal involvement in pediatric T1DM, though the proposed cut-off should be interpreted with caution. What is known: • Serum uric acid levels have been associated with an increased risk of developing DKD and development of albuminuria has been linked to higher SUA levels in patients with diabetes. What is new: • The mean SUA level demonstrated a moderate discriminative ability for microalbuminuria, with an AUC of 0.66 (p = 0.008, 95% CI [0.56–0.76]), providing 63% sensitivity and 65% specificity at a cut-off value of 3.98 mg/dL. • The rate of microalbuminuria is 3.06 times higher in pediatric patients with T1DM when SUA is ≥ 3.98 mg/dL. • Considering the ongoing debate regarding the definition of elevated SUA levels even in healthy individuals, the proposed cut-off may serve as a preliminary reference for future studies exploring risk assessment and follow-up in this population.

Objective: Obesity is defined as excessive increase in adipose tissue in the body. Adipose tissue also provides the secretion of adipokine hormones such as leptin, adiponectin, asprosin and apelin, which play an important role in metabolism and energy homeostasis. For this reason, changes in the levels of these adipokine hormones secreted from the adipose tissue, not the increase in adipose tissue alone, are effective in determining childhood obesity and explaining the pathological mechanisms. Evaluation of these polypeptides will be effective in the diagnosis of obesity and elucidating the pathological mechanisms associated with obesity. Material and Method: In our study, it was conducted to reveal the relationship of obese children with some markers of obesity such as serum leptin, adiponectin, asprosin and apelin levels, and blood lipids, fasting blood glucose and insulin resistance index (HOMA-IR) values. 105 obese children and 38 normal weight children participated in our study. The demographic information of the children was determined by the face-to-face survey method. Leptin, adiponectin, asprosin and apelin levels were determined in morning fasting blood samples from obese and normal weight children with the help of commercial Elisa kit. Result and Discussion: Leptin and adiponectin levels were not different in obese and normal weight children (p>0.05). Asprosin and apelin levels were found to be significantly higher in obese children compared to normal weight children (p<0.001). Positive correlations were observed between adipokine hormones in both obese and normal children. The ratios of leptin/asprosin, leptin/apelin, adiponectin/asprosin, adiponectin/apelin, asprosin/apelin were found to be statistically significantly lower in obese children when compared with normal weight children (p<0.05). In our study, high levels of asprosin and apelin, which have conflicting results in the literature, and positive correlations between adipokine hormones can be considered as important findings.

Polycystic ovary syndrome (PCOS) is a chronic and heterogeneous disease associated with obesity, hyperinsulinemia, dyslipidemia and chronic low-grade inflammation. Adipsin is a protein that is mostly secreted from adipose tissue and is a structural homolog of complement factor D, the rate-limiting enzyme of the alternative complement system. The aim of this study was to investigate adipsin levels in adolescents with PCOS and their relationship with obesity. 40 normal weight--children with PCOS and 40 obese-children with PCOS, and 40 normal weight healthy children participated in our study. Adipsin levels of adolescents in each group was measured in morning fasting blood samples by a commercial ELISA kit. Adipsin levels showed statistically significant differences between the groups. (p<0.001). Normal-weight PCOS adolescents had higher adipsin levels than both obese PCOS and healthy controls. A negative correlation was observed between adipsin levels and BMI in the PCOS group (r=-0,457, p<0,001). In conclusion, adipsin can be considered as an independent risk factor in normal weight adolescents with PCOS and may help in the diagnosis of PCOS in normal weight children with other symptoms.