Objectives: The COVID-19 pandemic is a global health problem with high morbidity and mortality. This study aimed to investigate patients who were diagnosed with type 1 diabetes during the pandemic and evaluate the effect of the pandemic on the clinical findings of these patients by comparing them with findings from a year prior. Methods: Patients diagnosed with type 1 diabetes mellitus between 2019 and 2021 were separated into two groups: Patients diagnosed prepandemic and those diagnosed during the pandemic. Results: The number of newly diagnosed diabetes cases increased from 46 in the prepandemic period to 74 in the pandemic period. The number of cases diagnosed with diabetic ketoacidosis (DKA) in the clinic increased from 58.7 to 91.9%. We found that moderate and severe DKA rates from 18.5 and 14.8% to 23.5 and 22.1%, respectively. Besides, the average HbA1c was higher, while the average bicarbonate was lower in cases diagnosed during the pandemic period compared to the prepandemic period (p=0.048 and p<0.001, respectively). We found that celiac autoantibody positivity antibodies to glutamic acid decarboxylase (anti GAD) positivity, and islet cell antibodies (ICA), ICA and anti GAD positivity coexistence were higher (p=0.045, p=0.008, and p=0.007, respectively) among the patients diagnosed during the pandemic. Conclusions: We observed an increase in the number of patients newly diagnosed with type 1 diabetes mellitus, an increase in autoantibody positivity, and higher rates and severity of DKA during the COVID-19 pandemic period compared to the prepandemic period.

Objective: The aim of this study was to investigate the effects of the devastating 2023 Kahramanmaraş earthquake on the glycemic control of children with type 1 diabetes (T1DM) in Adana, Turkey. Additionally, the study aimed to assess the impact of continuous glucose monitoring (CGM) device assistance on glycemic control after the earthquake. Materials and Methods: A retrospective study was conducted involving 134 children with T1DM receiving intensive insulin treatment. Participants were divided into 2 groups: CGM (+) (n = 58), who benefited from CGM device assistance, and CGM (−) (n = 76), who did not utilize CGM device after the earthquake. Glycated hemoglobin (HbA1c) levels were recorded before and after the earthquake. Results: Following the earthquake, the median HbA1c for all participants changed insignificantly from 8.9% to 8.6% (P = .491). However, in the CGM (+) group, HbA1c levels significantly improved post earthquake (P = .001). Conversely, the CGM (−) group experienced a deterioration in glycemic control (P = .027). A 2-way repeated measures ANOVA revealed a significant interaction effect between CGM device usage and the earthquake on HbA1c levels (F = 17.257, P < .001). Subgroup analysis based on age indicated that the effectiveness of CGM was more pronounced in adolescents (≥12 years) than in younger children (<12 years). Conclusion: This study highlights the adverse impact of the earthquake on glycemic control in children with T1DM and underscores the effectiveness of CGM in improving glycemic control, particularly among adolescents. The provision of CGM devices following the earthquake led to enhanced outcomes, mitigating the negative effects of the disaster on glycemic control. Cite this article as: Tarçın G, Dilek SÖ, Kılıç S, Ata A. Effect of continuous glucose monitoring device assistance on glycemic control of 2023 Kahramanmaraş doublet earthquake survivors with type 1 diabetes in Adana, Turkey. Turk Arch Pediatr. 2023;58(6):653-657.

Objectives: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way. Methods: We investigated clinical and genetic features for 18 consecutive probands and their 17 affected family members with HHR. All patient’s clinical and biochemical data were collected. We first analyzed a single gene with Next-generation sequencing if the patients have a strong clue for an individual gene. For the remaining cases, a Hypophosphatemic Rickets gene panel, including all known HHR genes by Next-generation sequencing, was employed. Results: We were able to diagnosis all of the consecutive 35 patients in our tertiary care center. We detected nine novel and 10 previously described variants in PHEX (9; 50%), SLC34A3 (3; 17%), ENPP1 (3; 17%), SLC34A1 (1; 5%), CLCN5 (1; 5%), and DMP1 (1; 5%). Conclusions: To delineate the etiology of HHR cases in a cost and time-efficient manner, we propose single gene analysis by next-generation sequencing if findings of patients indicate a strong clue for an individual gene. If that analysis is negative or for all other cases, a Next-generation Sequence gene panel, which includes all known HHR genes, should be employed.

Objective: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study was to describe the phenotypes of Turkish CPHD patients and define the frequency of PROP1 mutations. Methods: Fifty-seven CPHD patients from 50 families were screened for PROP1 mutations. The patients were affected by growth hormone (GH) and additional anterior pituitary hormone deficiencies. Results: All patients had GH deficiency. In addition, 98.2% had central hypothyroidism, 45.6% had hypogonadotropic hypogonadism, 43.8% had adrenocorticotropic hormone deficiency and 7.1% had prolactin deficiency. Parental consanguinity rate was 50.9% and 14 cases were familial. Mean height standard deviation score (SDS) and weight SDS were -3.8 +/- 1.4 and -3.1 +/- 2.0, respectively. Of 53 patients with available pituitary imaging, 32 (60.4%) showed abnormalities. None had extra-pituitary abnormalities. Eight index patients had PROP1 gene mutations. Five sporadic patients were homozygous for c.301_302delAG (p.Leu102CysfsTer8) mutation, two siblings had exon 2 deletion, two siblings had complete gene deletion and two siblings were homozygous for the novel c.353A>G (p.Q118R) mutation. The frequency of the PROP1 mutations was 16% in our cohort. Mutation rate was significantly higher in familial cases compared to sporadic cases (42.8% vs 11.6%; p<0.01). Conclusion: Phenotype of patients regarding hormonal deficiencies, pituitary morphology, presence of extra-pituitary findings, family history of CPHD and parental consanguinity are important for deciding which pituitary transcription factor deficiency should be investigated. PROP1 mutation frequencies vary in different populations and its prevalence is high in Turkish CPHD patients.