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Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. Methods: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. Results: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24±1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03±17.09 and the verbal score was 82.88±9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. Conclusion: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families. [ABSTRACT FROM AUTHOR]

Aims. To evaluate responsibility sharing between parents of children with type 1 diabetes and change in their occupational status one year after the diagnosis. Methods. In this cross-sectional multicenter study, parents of children under the age of 18 with a diagnosis of type 1 diabetes answered a questionnaire assessing diabetes-related responsibility sharing between parents, and occupational changes due to child's diabetes. Changes in the occupational status with associated factors and distribution of diabetes-related responsibilities between parents were analyzed. Results. Among parents of 882 children (mean (SD) age at diagnosis was 7 (3.8) years, female 52.5%), unemployment increased significantly in mothers (59.0% vs. 67.1%; p < 0.001), but not in fathers (10.4% vs. 10.7%; p > 0.05) within 1 year after their child's diagnosis. Working mother's occupational withdrawal was associated with the child's age at diagnosis (OR = 0.92, [95% CI 0.86–0.99]; p = 0.02) and mother's education (compared to a university degree or above, high school graduate (OR = 2.93, [95% CI 1.59–5.4]; p < 0.001) and not graduated high school (OR = 8.4, [95% CI 3.56–19.83]; p < 0.001)). According to the mothers, none of the responsibilities in diabetes care were shared equally between parents, while fathers reported most responsibilities were shared equally. Compared to mothers who preserved their occupation after the diagnosis, mothers who quit their occupation had significantly higher responsibility scores (2.04 vs. 1.55; p = 0.04), especially in diabetes care at school (p < 0.01). Conclusions. The difference in parents' perceptions of their involvement in their child's diabetes is remarkable. Gender differences in the child's diabetes care extend to the occupational life of parents unequally. [ABSTRACT FROM AUTHOR]

Introduction: Vitamin D-dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1-α-hydroxylase enzyme deficiency. This rare disease occurs due to biallelic pathogenic variants in the CYP27B1 gene. We evaluated VDDR-1 patients retrospectively in terms of clinical and biochemical characteristics, treatment response, and genetic results. Materials and Methods: VDDR-1 cases with biallelic variants in CYP27B1 from 12 families were included. Demographic and clinical data were extracted from records. Following DNA isolation and standardized PCR, we performed next- generation sequencing with Miseq device. Data analysis was performed using IGV 2.3 software. Results: The cohort included 22 patients, 11 (50%) female and 11 male. Median age at diagnosis was 12 (7.75-18) months. Mean calcium, phosphorus, alkaline phosphatase (ALP) and vitamin D concentration was 7.6±0.98 mg/dL, 2.9±0.77 mg/dL, 1149±692 IU/L, 391±181 pg/mL, and 55±38 ng/mL, respectively at diagnosis The most common reasons for presentation were growth retardation, short stature, convulsions, and extremity deformity. The most common variant was the previously identified c.195 + 2T>G substitution, which was detected in 5 families. The second most common variant was another previously reported c.574A>G (p.Lys192Glu) variant, which was detected in 3 families. c.171delC (p.Leu.58Cfs*20), c.240delT (p.Phe80Leufs*79), and c.1166G>A(p.Arg389His) homozygous variants and c.1215_1215+2delinsCGA/c.1474C>T (p.Arg492Trp) compound heterozygous variant were detected in one family each. Conclusion: VDDR-1 should be considered in rickets patients not recovering with high-dose vitamin D therapy. Delayed diagnosis of VDDR-1 may lead to unnecessary orthopedic surgery in some cases. We are of the opinion that providing early diagnosis, treatment and genetic counseling will give reliable and important information to families. [ABSTRACT FROM AUTHOR]

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Objective: The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend globally, with a variable rate depending on region and ethnicity. Our group first reported T1D incidence in Diyarbakır in 2011. The aim of this study was to evaluate the current incidence rate of pediatric T1D in Diyarbakır, and compare the incidence, and clinical and presenting characteristics of more recent cases with those reported in our first report. Methods: Hospital records of patients diagnosed with T1D in Diyarbakır city between 1st January 2020 and 31st December 2020 and aged under 18 years old were retrieved, and their medical data was extracted. Demographic population data were obtained from address-based census records of the Turkish Statistical Institution (TSI). Results: Fifty-seven children and adolescents were diagnosed with T1D. Of those, 34 were female (59.6%), indicating a male/female ratio of 1.47. The mean age at diagnosis was 9.5±3.9 years (0.8-17.9). TSI data indicated a population count of 709,803 for the 0-18 years age group. Thus the T1D incidence was 8.03/105 in the 0-18 age group and was higher in the 0-14 age group at 9.14/105. The cumulative increase in the incidence of T1D in the 0-14 age group was 26.9% suggesting an increasing rate of 2.7% per year. The frequency of presentation with diabetic ketoacidosis was 64.9%. Conclusion: The annual incidence of pediatric T1D in Diyarbakır city increased from 7.2/105 to 9.14/105 within the last decade. The rate of annual increase was 2.7% in the 0-14 age group comparing this study with our earlier report, with a predominance in male subjects and a shift of peak incidence from the 5-9 year age group in the first study to the 10-14 year age group in this one. [ABSTRACT FROM AUTHOR]

Abstract: Background: Studies on adults have shown increased dispersion of QT and corrected QT (QTc), peak‐to‐end interval of the T wave (Tp‐e), Tp‐e/QT ratio, and Tp‐e/QTc ratio in subclinical hypothyroidism (SH), but there have been no pediatric studies. Materials and methods: A total of 40 SH patients were compared with 40 healthy children in respect to serum thyroid‐stimulating hormone (TSH), serum‐free level of triiodothyronine, and free level of thyroxine (fT4). SH diagnosis was accepted as TSH above the laboratory accepted upper limit (>4.2 mU/L) and normal fT4 values. The patient and control group data were compared by calculating the QT interval, QTc, QT dispersion (QTd), QTc dispersion (QTcd), Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio on 12‐lead surface electrocardiogram. Results: The mean age was 7.91 ± 3.6 years in the SH group and 8.8 ± 2.4 years in the control group. In the SH group, the minimum QT (QTmin) was determined to be statistically significantly lower (P < 0.001) and maximum QT (QTmax), QTd, QTcd, Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio were statistically significantly higher (P = 0.028, P < 0.001, P = 0.003, P < 0.001, P = 0.001, P < 0.001, respectively). A positive correlation was determined between TSH and QTmax (r: +0.331, P = 0.037). Conclusions: The current study is the first to have shown significantly increased QTd, QTcd, Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio in children diagnosed with SH. A positive correlation was determined between TSH and maximum QT values, Tp‐e, Tp‐e/QT ratio, and Tp‐e/QTc ratio. These results suggest the need to further assess the long‐term risks of prolonged QT dispersion in the setting of subclinical hypothyroidism. [ABSTRACT FROM AUTHOR]

Objective: Subclinical hypothyroidism (SH) is defined as an elevated serum thyroid-stimulating hormone (TSH) level with free thyroxine (fT4) level in the normal range. There are very few studies in the literature reporting on the effect of SH on lipid metabolism and carotid intima-media thickness (CIMT) in children. Methods: The study included 38 children diagnosed with SH and a control group comprising 38 healthy, euthyroid children. SH was diagnosed based on an elevated TSH level (4.2-20 mIU/L) and normal fT4 level measured in two morning fasting blood samples obtained at an interval of 2 to 6 weeks. Blood samples were collected by venipuncture in the morning after an overnight fast. Results: The patient group included 38 children (16 male, 22 female) with SH and the control group -38 healthy, euthyroid children (20 male, 18 female). Mean age was 8.1±3.6 (range, 3.5-15) years in the patient group and 8.9±2.4 (range, 4.5-15) years in the control group. In the patient group, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), TC/high-density lipoprotein cholesterol (HDL-C), and LDL-C/HDL-C were higher compared to the control group (p=0.049, p=0.014, p=0.002, and 0.003, respectively). In the patient group, CIMT was also significantly higher compared to the control group (p=0.001). The patient group was further divided into two subgroups based on their serum TSH level: (I) patients with mildly elevated TSH (TSH=4.2±10 mIU/L) (n=33) and (II) patients with high TSH (TSH=10 mIU/L) (n=5). However, no significant difference was found between the patients with mild and severe SH with regard to TC, LDL-C, HDL-C, triglyceride level and CIMT levels (p=0.635, p=0.424, p=0.310, p=0.342, and 0.610, respectively). Conclusion: Subclinical hypothyroidism leads to increased dyslipidemia (increased TC and LDL) and increased CIMT, which leads to increased risk of cardiovascular disease. Further studies are needed to substantiate these findings in children with SH. [ABSTRACT FROM AUTHOR]