Purpose: We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. Methods: This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by “National Newborn Screening Program” (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). Results: Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34–38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. Conclusion: According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

Objectives: Human recombinant enzyme replacement therapy, given to compensate for genetic enzyme deficiency in lysosomal storage diseases, delays the progression of the disease and improves the quality of life. However, enzyme replacement therapy may cause hypersensitivity reactions. Within the scope of this research, we aimed to elucidate the frequency and clinical features of hypersensitivity reactions against enzyme replacement therapy in children with lysosomal storage diseases and clarify the management of these reactions. Methods: Medical records of pediatric patients with lysosomal storage disease and receiving enzyme replacement therapy were retrospectively reviewed, and patients who experienced allergic reactions were included in the study. The demographic characteristics of the patients, their diagnosis, the responsible enzyme, the time at which the reaction started and at what dose, the signs and symptoms associated with the reaction, diagnostic tests, the management of the reaction, and the protocol applied for the maintenance of enzyme replacement therapy after the reaction were recorded. Results: Hypersensitivity reactions developed in 18 of 71 patients (25.3 %) who received enzyme replacement therapy. The most common cutaneous findings were observed. Anaphylaxis developed in 6 of 18 patients. Patients who experienced recurrent hypersensitivity reactions with premedication or a slower infusion rate, those with positive skin test results, and patients who developed anaphylaxis were given enzyme replacement therapy with desensitization. Conclusions: HSR may develop during enzyme replacement therapy, which are vital in lysosomal storage diseases, and discontinuation of enzyme replacement therapy is a significant loss for patients with metabolic disorders. These reactions can be treated with premedication and long-term infusions, but some patients may require desensitization protocols for continued treatment.

This study aimed to evaluate the prevalence of metabolic syndrome (MetS) in children with Type 1 Diabetes Mellitus (T1DM) and to determine the predictive value of simple anthropometric measurements-particularly neck circumference (NC) and waist circumference (WC)-in identifying MetS. A total of 168 children (aged 6-18 years) with T1DM were included in this cross-sectional study. Anthropometric (NC, WC, BMI, TMI) and laboratory parameters (lipid profile, HbA1c) were recorded. MetS diagnosis was established according to the International Diabetes Federation (IDF) criteria. Receiver operating characteristic (ROC) curve analysis and LASSO regression were employed to identify key predictors. The prevalence of MetS was 8.9%. Children with MetS had significantly higher BMI, WC, NC, HC, and TMI values compared to non-MetS counterparts. ROC analysis revealed WC z-score had the highest discriminative power (AUC: 0.954), followed by NC z-score (AUC: 0.906). LASSO regression identified NC z-score and BMI percentile as the most robust predictors. A strong positive correlation was observed between NC and WC (r = 0.812, p 1.04 or WC z >1.41 as actionable thresholds.

This study explored the association between the visceral adiposity index (VAI) and metabolic syndrome (MetS) in children with type 1 diabetes mellitus (T1DM). The study was conducted between September 2023 and March 2024 at a tertiary pediatric endocrinology clinic in Türkiye. Metabolic syndrome was defined using criteria of the World Health Organization and the International Diabetes Federation. The classification threshold was set at a cut-off value of 1.77. Metabolic syndrome occurred in 22.5% of children by World Health Organization criteria and 8.6% by International Diabetes Federation criteria. Higher visceral adiposity index values were linked to abdominal fat and adverse lipid findings. The VAI significantly predicted MetS (odds ratio: 13.29, P = .001), with an area under the curve of 0.830. The VAI is a simple and effective tool for early identification of MetS risk in children with T1DM .

Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder characterised by recurrent febrile attacks and serosal inflammation. Although Mediterranean fever gene (MEFV) gene mutations are central to disease pathogenesis, considerable phenotypic heterogeneity exists and the contribution of autoimmune comorbidities to disease expression remains insufficiently characterised in adult populations. Objective: This study aimed to evaluate genotype-phenotype associations and to assess the frequency and clinical impact of autoimmune comorbidities in a large cohort of adult patients with FMF. Methods: We retrospectively analysed 786 adult FMF patients diagnosed according to the Tel-Hashomer criteria. Demographic characteristics, MEFV mutation profiles, clinical manifestations during attacks, acute-phase reactants, treatment regimens and response to colchicine were systematically recorded. Genetic analyses were performed using sequencing-based methods. Statistical analyses were conducted using Statistical Package for the Social Sciences software. Results: Arthralgia was the most frequent clinical manifestation (89.8%), followed by abdominal pain and myalgia. Homozygous MEFV mutations, particularly M694V homozygosity, were significantly associated with increased disease severity, higher attack frequency and colchicine resistance. Autoimmune comorbidities were identified in 30.4% of patients, with ankylosing spondylitis being the most common (19.8%). Patients with homozygous M694V mutations exhibited higher rates of colchicine resistance ( P = .021) and required interleukin-1 inhibitors more frequently ( P = .003). Conclusion: FMF exhibits marked clinical heterogeneity influenced by both genetic background and coexisting autoimmune conditions. Homozygous M694V mutations are associated with severe disease and treatment resistance. Routine evaluation for autoimmune comorbidities may facilitate individualised treatment strategies in adult FMF patients.

Background: Growth hormone (GH) stimulation tests have limited diagnostic precision in childhood short stature (SS), and the relationships among endocrine phenotype, GH1 variation, and long-term treatment response remain unclear. We examined the clinical, endocrine, genetic, and five-year growth outcomes of children receiving recombinant GH. Methods: In this retrospective cohort study, 74 children with SS were classified as idiopathic SS (ISS; n = 28) or growth hormone deficiency (GHD; n = 46) using available GH stimulation-test results together with the integrated clinical, auxological, biochemical, radiological, and treatment-eligibility assessments documented in the medical records. Results: Median annual height velocity was 9.0 cm/year, median height gain was 1.80 standard deviation scores (SDS), and median IGF-1 increased from 125.5 to 306 µg/L. GH dose, endocrine parameters, annual height velocity, height gain SDS, and mean post-treatment height and weight gain did not differ significantly between groups. Height and weight increased over follow-up (both p < 0.001), with no significant group or time-by-group interaction. GH1 sequencing predominantly identified common promoter/upstream and intronic polymorphisms; no pathogenic or likely pathogenic variants were detected. Exploratory genetic clustering showed no clinically meaningful association with endocrine phenotype or treatment response. Conclusions: Adjusted models detected no statistically significant between-group differences in height or weight trajectories. This finding does not establish equivalent treatment efficacy.