Aynur Bedel

Objectives: Central precocious puberty (CPP) and premature thelarche (PT) are two common conditions in young girls that can present with overlapping clinical features, making differential diagnosis challenging. We aim to investigate whether serum uric acid (SUA) and urinary uric acid (UUA) parameters can help differentiate CPP from PT in girls. Methods: This prospective case-control study included 40 girls diagnosed with CPP, 60 with PT, and 50 healthy controls, aged 6–8 years, evaluated between 2022 and 2024. SUA, UUA, serum creatinine (SCr), urinary creatinine (UCr) levels, urinary acid/creatinine ratios (UUA/UCr) and the fractional excretion of uric acid (FEua) were measured and compared among groups. Results: Age did not differ among groups. The CPP group had significantly higher SUA, UUA/UCr, and FEua levels than both PT and controls (all p<0.05), while no significant differences were observed between PT and controls. ROC analysis showed excellent discriminatory performance for SUA (AUC=0.969, p<0.001; cut-off 4.1 mg/dL: 90 % sensitivity, 95 % specificity), while UUA/UCr and FEua demonstrated fair-to-modest diagnostic utility (AUC=0.789 and 0.697, respectively). Conclusions: Girls with CPP had significantly higher SUA, UUA/UCr, and FEua levels compared with PT and controls. SUA showed the strongest association with CPP and may support the differential diagnosis of pubertal disorders, but further studies are needed for clinical validation.

Objectives: Studies investigating the underlying genetic profile in pediatric patients diagnosed with differentiated thyroid cancer (DTC) are quite limited. This study aimed to identify genetic alterations in patients diagnosed with DTC. Methods: A total of 20 patients with confirmed DTC were included in the study; however, five were excluded due to the unavailability of thyroid tumor samples. Somatic mutation analysis of the DICER1, BRAF, KRAS, NRAS, and HRAS genes was performed using next-generation sequencing. In addition, gene fusions involving ALK, RET, PTC, ETV6, and NTRK3 were assessed using fluorescence in situ hybridization. A family screening was also conducted, and thyroid ultrasonography was performed. Fine-needle aspiration biopsy was carried out for family members when deemed necessary. Results: The mean age at diagnosis was 14.42 ± 2.88 years. Somatic mutations were identified in nine patients (60 %). The detected mutations were as follows: RET/PTC fusion (n=3), BRAF V600E (n=2), NRAS Q61R (n=1), NRAS A59D (n=1), DICER1 E1705K (n=1), and ETV6/NTRK3 fusion (n=1). No statistically significant differences in prognostic factors were observed between patients with and without somatic mutations. As part of the family screening, suspicious thyroid nodules were detected in four parents. One parent underwent hemithyroidectomy, and final pathology revealed papillary thyroid carcinoma. Conclusions: Considering the limited number of similar studies on childhood thyroid cancer, these findings provide a valuable contribution to the existing literature. In particular, the results obtained from family screening may support advancements in early diagnosis, risk stratification, and the development of targeted therapeutic approaches.

Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder - Journal of Clinical Research in Pediatric Endocrinology

Aims: Our objective is to explore changes in body fat distribution and muscle strength among a cohort of girls with idiopathic central precocious puberty (ICPP) undergoing the gonadotropin-releasing hormone analogs (GnRHa) therapy. Methods: A total of 50 patients who were newly diagnosed with ICPP and treated with GnRHa were included in the study. Patients were investigated at baseline, 6th months and 12th months. Results: Body-mass index (BMI) standard deviation score (SDS) was similar throughout the treatment duration. The percentage of body fat (PBF) increased from 24.2±5.1% at the beginning to 26.3±5.3% at the 6th month and to 27.7±5.43% at the 12th month (p

Objective: This study aimed to evaluate presentations of new-onset type 1 diabetes mellitus in a pediatric cohort during the coronavirus disease 2019 pandemic. Materials and Methods: This study was designed as a single-center, descriptive, cross-sectional retrospective study. The patients diagnosed with new-onset type 1 diabetes mellitus between April 1, 2020, and April 1, 2021, were included in the study. The rate of severe acute respiratory syndrome coronavirus 2 polymerase chain reactivity-positivity was investigated. The pandemic period was compared with the same period of the pre-pandemic 2 years in terms of number of new-onset type 1 diabetes mellitus patients, rate of presentation with diabetic ketoacidosis, and degree of diabetic ketoacidosis severity. Results: In total, 56 patients were diagnosed with type 1 diabetes mellitus during the pandemic and 2 (3.57%) of them tested positive for severe acute respiratory syndrome coronavirus 2 polymerase chain reaction. The number of new-onset type 1 diabetes mellitus patients was 39 in 2019 and 39 in 2018. The rate of presentation with diabetic ketoacidosis was similar in the pandemic period compared to the pre-pandemic periods (53.5% in 2020 vs. 56.4% in 2019 and 53.8% in 2018; P = .94). The proportion of severe diabetic ketoacidosis was also similar in all years, respectively (43.3% in 2020 vs. 45.4% in 2019 and 47.6% in 2018; P = .95). Conclusion: We reported only 2 cases that tested positive for severe acute respiratory syndrome coronavirus 2among the new-onset type 1 diabetes mellitus patients during the pandemic. Although we found an increase in the number of new-onset type 1 diabetes mellitus cases by comparing with prepandemic period, rates of diabetic ketoacidosis and severe diabetic ketoacidosis were similar. There was no finding to suggest that severe acute respiratory syndrome coronavirus 2taking a part in type 1 diabetes mellitus pathogenesis. Since the development of type 1 diabetes mellitus is a long process, prospective studies are needed to investigate the long-term effects of severe acute respiratory syndrome coronavirus 2. Cite this article as: Donbaloğlu Z, Tuhan H, Tural Kara T, et al. The examination of the relationship between COVID-19 and new-onset type 1 diabetes mellitus in children. Turk Arch Pediatr. 2022;57(2):222-227.