Search

The effects of thyroid hormones on body composition are well-known. We aimed to examine the body composition of children with and without Hashimoto's thyroiditis (HT) by bioelectrical impedance analysis (BIA) while they were still euthyroid. Between the ages of 5 and 18, 53 girls and 12 boys in each group, 65 children with HT, and 65 healthy children were included in this study. The Tanita MC-780 MA model was used to evaluate body composition parameters. These are fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water (TBW), phase angle, the ratio of muscle mass to fat mass (MFR), basal metabolic rate (BMR), and sarcopenic index (SI). Weight, height, body mass index standard deviation scores (SDSs), and pubertal status were examined. Additionally, TSH, Free-T4, Free-T3, Anti-TPO, Anti-Tg, serum lipid levels, and thyroid volumes were compared. We observed that TBW (27.5 ± 7.5 kg vs. 24.8 ± 6.6 kg; p=0.029) and BMR (1,403 ± 253 kcal vs. 1,324 ± 200 kcal; p=0.049) were higher in the HT group. These differences are due to differences in age and muscle mass in the male group. The FM, FFM, MM, BM, MFR, SI, and phase angle scores did not differ between females with and without HT in euthyroid children by the BIA method. There is no significant change in body composition in euthyroid females with HT at admission. [ABSTRACT FROM AUTHOR]

Background: Symptomatic dermographism (SD) is the most common form of chronic inducible urticaria. SD disease activity increases with food intake in adult patients. Whether this is also so in children with SD is currently unknown. Objective: To assess children with SD for their disease activity by standardized provocation testing before and after eating. Methods: We subjected 44 children with SD (29 girls; median [interquartile range] age 12.5 years [8.3‐15 years]), before and after eating, to standardized skin provocation testing with a dermographometer. Dermographometer scores were calculated based on responses evaluated at 1-minute intervals for 10 minutes and recorded as negative (‐) or positive (+ to ++++). Clinical characteristics and urticaria control test scores were documented. Results: Dermographometer scores before eating were 2.3 of 4 on average and inversely correlated with urticaria control test scores. Dermographometer scores were higher after eating than before eating. Of 44 children with SD, 35 had increased dermographometer scores after eating and 9 patients had a postprandial increase of ≥1 point. Eating-induced increases in dermographometer scores were linked to earlier whealing in 17 of 35 patients, and differences in preprandial versus postprandial dermographometer responses were more pronounced at earlier than later time points after testing. Conclusion: Disease activity, as assessed by provocation testing, is increased in most pediatric patients with SD after eating. Future studies should explore the prevalence of food-exacerbated SD in larger pediatric SD populations. Most pediatric patients with symptomatic dermographism have higher disease activity, assessed by provocation testing, after eating as compared to before eating. Standardized provocation testing and trigger threshold assessments in children with symptomatic dermographism should be performed before and after eating. Knowledge of food-exacerbated disease may help patients with the management of their symptomatic dermographism. [ABSTRACT FROM AUTHOR]

Gonadotropin-releasing hormone (GnRH) test is the gold standard test to evaluate the hypothalamus–pituitary–gonadal (HPG) axis for the diagnosis of central precocious puberty (CPP). However, the diagnosis of cases with clinical features of CPP whilst have borderline peak luteinizing hormone (LH) remain challenges. We aimed to evaluate diagnostic performance of the average of LH levels measured during GnRH stimulation test. Cases with diagnosis of CPP and premature thelarche (PT) who had a GnRH stimulation test results were retrospectively reviewed. Anthropometric measurements (weight, height, and body mass index), age and sex-specific standard deviation scores, growth velocity, puberty stages, bone ages, serum FSH, LH, and estradiol levels were measured by electrochemiluminescence immunological method (ECLIA), and the GnRH stimulation test results, which performed by obtaining venous blood samples at basal, 20th, and 40th minutes for FSH and LH measurement, were recorded. A total of 76 girls (38 CPP, 38 PT) were included. We detected an average peak LH cut-off value of 4.25 IU/L with 94.7 % sensitivity and 97.4 % specificity, a 97.3 % positive predictive value, and a 94.9 % negative predictive value in GnRH test to differentiate cases with CPP from PT. This is the first study evaluating the diagnostic utility of the average of LH levels measured during GnRH stimulation test. We showed that the average of two LH measurements has a high diagnostic performance. Therefore, it can be used as a valid and reliable diagnostic tool for assessment of HPG axis activation, particularly for cases with a borderline peak LH level. [ABSTRACT FROM AUTHOR]

Body esteem (BE) and quality of life (QOL) of girls aged 9–11 years may change depending on their puberty. We aimed to examine The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0) and the Body Esteem for Adolescents and Adults Scale (BESAA) for children. The groups were determined as those whose puberty signs had not yet started (Group 1), those having with breast development stage 3 and/or larger (Group 2), and those who had received gonadotropin-releasing hormone agonist (GnRHa) treatment for at least 6 months (Group 3). A total of 145 girls (Group 1: 41, Group 2: 56, Group 3: 48), were included. The PedsQL scores of the Group 1 was higher than Group 2 (78.5 ± 10.3 vs. 70.1 ± 14.2; p=0.008). The PedsQL scores of the Group 1 was higher but not statistically different from Group 3 (78.5 ± 10.3 vs. 74.2 ± 14.3; p=0.401). The PedsQL scores of Group 2 was not statistically different from Group 3 (p=0.354). There was no statistical difference in BESAA scores between groups (p=0.291). Group 1's PedsQL Health and Activity subscale score was higher than Group 2 (p=0.002). The QOL of the girls with PP was found to be lower than their healthy peers. Health and Activity-related QOL scores were found to be lower in the untreated group, indicating that girls with PP were probably significantly disturbed by their puberty-related physical development at the onset of the disease. [ABSTRACT FROM AUTHOR]

Alkaline phosphatase (ALP) can be increased in a benign condition known as benign-transient hyperphosphatasemia (BTH). We aimed to evaluate the demographic, and clinical characteristics of infants and children with BTH. In our retrospective study, infants and children diagnosed with BTH between September 2019 and September 2023 were included. Of 249 children with elevated ALP levels, 95 (38.1 %) had BTH. The mean age at diagnosis of children with BTH was 2.4 ± 1.3 years (min 0.6 – max 6.2 years). ALP mean value was 2,587 ± 1252 U/L (min 972 – max 5757 U/L). ALP value was an average 7.4 ± 3.6 times higher than the corresponding upper limit of normal. The second measurement was made after an average of 13.2 ± 6 days, and a statistically significant difference was detected compared to the first value, with a decrease of 61 ± 23 % in the ALP value (p<0.001). ALP value returned to normal in an average of 44 ± 29.2 days. Elevated ALP was detected during infection in 49 (51.6 %) children. When the sample was divided into those under 2 years of age and aged 2 and over, no statistical difference was observed in ALP levels in the time it took for ALP levels to return to the normal range (p=0.480). BTH should be kept in mind if high serum ALP is detected in children without clinical or laboratory suspicion of bone or liver disease. In the follow up detecting a significant decrease trend compared to the first value may be guiding for BTH. [ABSTRACT FROM AUTHOR]

Objective: Polycystic ovary syndrome (PCOS) diagnosis is controversial in adolescents. Therefore, auxiliary markers are required for the diagnosis of PCOS. We aimed to evaluate whether luteinizing hormone (LH)/ follicle-stimulating hormone (FSH) ratio, free androgen index (FAI), anti-Mullerian hormone (AMH), and sex hormone-binding globulin (SHBG) levels are a useful test to screen adolescents with PCOS and to investigate which of them has more diagnostic value in the PCOS diagnosis. Material and Methods: A total of 56 girls with PCOS and 70 healthy girls consisted in this study. Pediatric Endocrine Society criteria were used to diagnose PCOS. Clinical examinations and hormonal assays were performed. Results: The LH/FSH ratio, and FAI levels were detected significantly higher, and SHBG levels were detected significantly lower in the PCOS group than in the control group (p<0.001). The best marker for PCOS diagnosis was found as AMH. In all adolescents with PCOS, irrespective of obesity/overweight, significantly higher AMH levels were observed compared to the control subjects (p<0.001). Also, we measured a LH/FSH ratio cut-off value of 1.48 ng/ml with 77% sensitivity and 77% specificity to differentiate cases with PCOS from healthy controls. Conclusion: AMH, FAI, and LH/FSH ratio could be usefull and valuable tests for the PCOS diagnosis in the presence of the PCOS criteria. AMH was found to be the strongest diagnostic marker in patients with PCOS. [ABSTRACT FROM AUTHOR]

Background/aim: Obstructive sleep apnea (OSA) is a common sleep-related breathing disorder in children. Determination of risk factors for the development of OSA is essential for early diagnosis and treatment of the disease and decreases the risk of negative consequences. This study aimed to investigate the predictive values of Mallampati score, tonsillar size, and BMI z-score in the presence and severity of OSA in children. Materials and methods: This prospective cross-sectional study included 114 children with OSA symptoms. All children were assessed by BMI z-score, Mallampati score, and tonsillar size and underwent overnight polysomnography. They were consecutively selected and assigned to 4 groups as follows: Group 1 included normal-weight with a low Mallampati score; Group 2 involved normal-weight with a high Mallampati score; Group 3 included obese with a low Mallampati score; and Group 4 involved obese with a high Mallampati score. Results: Of the 114 included children, 58 were female and 56 were male, with a mean age of 13.1 ± 2.9 years. OSA frequency and apnea-hypopnea index were significantly higher in group 4 compared with other groups (p = 0.003 and p < 0.0001, respectively), whereas average and minimum spO2 were significantly lower (for both, p = 0.001). Mallampati score and BMI z-score were found to be significant for predicting OSA (odds ratio = 4.147, 95% CI: 1.440-11.944; p = 0.008 and odds ratio = 1.760, 95% CI: 1.039-2.980; p = 0.035, respectively). Among OSA patients, the Mallampati score, tonsillar size, and BMI z-score were found to be significant for predicting OSA severity (odds ratio = 4.520, 95% CI: 1.332-15.335, p = 0.015, odds ratio = 9.177, 95% CI: 2.513-33.514, p = 0.001, and odds ratio = 2.820, 95% CI: 1.444-5.508; p = 0.002, respectively). Conclusion: The coexistence of the Mallampati score and BMI z-score significantly increases the presence of OSA in children. Mallampati score, tonsillar size, and BMI z-score are promising parameters for predicting OSA severity. [ABSTRACT FROM AUTHOR]

Gonadotropin-releasing hormone agonist (GnRHa) has been used for central precocious puberty (CPP) or early and fast puberty. It was aimed to assess changes in body mass index (BMI), polycystic ovary syndrome (PCOS) frequency, and anti-Müllerian hormone (AMH) in girls who had been treated with GnRHa. Fifty-eight adolescent girls treated with GnRHa for CPP or early and fast puberty (3.75 mg/28 days), between 2011 and 2015, were re-evaluated in 2020–2022 at least 2 years after menstruation. Hormonal analyses were compared with 51 healthy adolescents. In the GnRHa-treated group, a statistically significant increase was observed when the BMI standard deviation score (SDS) at the beginning of the treatment was compared with the BMI SDS at the end of the treatment (p=0.038). A statistically significant decrease was observed when the BMI SDS at the end of the treatment was compared with the BMI SDS in late adolescence (p=0.012). When the BMI SDS at the beginning of the treatment was compared with the BMI SDS in late adolescence, it was observed that there was no statistically significant difference (p=0.196). Of the 58 girls in the GnRHa-treated group, 8 (14 %) had PCOS. Serum AMH levels did not differ between the GnRHa-treated and the control group. GnRHa treatment causes no adverse effect on BMI, at least in late adolescence. Girls treated with GnRHa were not found to be prone to developing PCOS. AMH levels were similar in the GnRHa-treated group as in the control group. [ABSTRACT FROM AUTHOR]

Objective: Shear wave elastography can detect inflammation and fibrosis in the thyroid tissue. It can be used to evaluate Hashimoto's thyroiditis or in the assessment of thyroid diseases accompanying type 1 diabetes mellitus. Our aim was to examine whether there is a difference between the shear wave elastography scores as kilopascals of individuals with type 1 diabetes mellitus and healthy children, and the relationship between diabetes-related parameters and shear wave elastography scores. Materials and Methods: A total of 77 type 1 diabetes mellitus children and 53 healthy controls were compared. Serum thyroid-stimulating hormone, free thyroxine, free tri-iodothyronine, antibodies against thyroid peroxidase and thyroglobulin, average of the last 2 control plasma glycosylated hemoglobin A1c, duration of diabetes and daily insulin dose in diabetic individuals, thyroiditis staging by ultrasound, and shear wave elastography scores were also recorded. Results: In terms of shear wave elastography scores, no significant difference was found between the healthy control group and the group with type 1 diabetes mellitus without Hashimoto's thyroiditis (7.9 ± 2.8 kPa vs. 8.4 ± 3.3 kPa, P = .772). The score of the group with type 1 diabetes mellitus accompanied by Hashimoto's thyroiditis (15.1 ± 6.6 kPa) was found to be higher than the group with type 1 diabetes mellitus without Hashimoto's thyroiditis and the healthy control group (P = .022 and P = .015, respectively). Conclusions: This is the first study to compare children with type 1 diabetes mellitus and healthy controls in terms of shear wave elastography scores. We found that there was no significant difference between the shear wave elastography scores of children with type 1 diabetes mellitus without Hashimoto's thyroiditis compared to healthy controls. [ABSTRACT FROM AUTHOR]

Objective: Some factors (age, weight, height, body mass index, body surface area, puberty stage, and iodine nutrition status) may affect thyroid volume (TV). We aimed to investigate the differences between chronological age and height age in interpreting goiter. Materials and Methods: The thyroid ultrasonography records of 420 children aged 1--18 years were evaluated. We searched the difference between the interpretations of goiter by recalculating the TV standard deviation score (SDS) in terms of both chronological ages and corrected for height age. We also evaluated those with negative thyroid autoantibodies and normal thyroid hormone levels by subgroup analysis. The evaluation of TV according to chronological age and height age and the change of goiter interpretation were compared with the McNemar test. Results: A total of 180 children who had euthyroid and negative thyroid autoantibodies were analyzed. A weak correlation was detected between TV and age (r=0.29, p<0.001), body weight (r=0.35, p<0.001), height (r=0.32, p<0.001), height age (r=0.32, p<0.001), body weight SDS (r=0.20, p=0.008) and height SDS (r=0.21, p=0.005). When the changes of goiter interpretation were compared, a statistically significant difference was determined in the whole group (p=0.029); however, there was no significant difference in children who were both euthyroid and found to have negative thyroid auto-antibodies (p=0.375). Conclusion: We observed that the interpretation of goiter changed according to chronological age and height age if thyroid hormone level and/or thyroid autoantibody positivity were included. [ABSTRACT FROM AUTHOR]

Objective: The frequency of using the internet and social media increases in childhood, which leads to a decrease in physical activity. We aimed to investigate the effects of such technological applications on the internet and food addiction in obese and nonobese children. Materials and Methods: A total of 180 obese and 180 nonobese children were included in this study. Turkish version of the Parent-Child Internet Addiction Scale and Dimensional Yale Food Addiction Scale Version 2.0 for Children were applied. Results: The frequency of internet addiction in the sample was 1.7%. The mean internet addiction scores of males were found to be significantly higher than females (34.9 ± 20.6, 26 ± 17.2; P < .001). Children, who used the internet for information and homework had significantly lower internet addiction scores and food addiction scores, respectively (P = .002, P = .009). Watching movies, TV series, or sports events (P < .001, P = .009); following food recipes, campaigns, or advertisements (P = .04, P < .001); and eating snacks in front of the screen (P < .001, P < .001) were found to cause higher internet addiction scores and food addiction scores. It was observed that body mass index showed a positive and significant correlation with internet addiction scores and food addiction scores. Conclusions: Internet addiction and social media applications were found to be significantly related. Considering the relationship between body mass index and addiction, the effect of internet usage style and internet addiction and food addiction on obesity is striking. [ABSTRACT FROM AUTHOR]

Purpose: To investigate whether an association exists between obesity and optic nerve parameters. Methods: This was a prospective comparative study including 125 eyes of 63 obese and 122 eyes of 62 healthy pediatric subjects. Optic nerve measurements were performed using the Cirrus spectral domain optical coherence tomograph (SD-OCT). Results: The disc area, cup volume, mean and vertical C/D ratio, inferior and temporal RNFL thickness values were significantly higher in the control group than the obese group; however, age, sex, mean, superior and nasal RNFL thickness and rim area measurements were not statistically significantly different between the two groups. Age was significantly negatively correlated with temporal RNFL thickness in the obese group. Girls had significantly higher rim area, mean and superior RNFL thickness, and lower cup volume and vertical C/D ratio than boys in the obese group. Conclusion: These results could be helpful in the diagnosis and follow-up of obese children. [ABSTRACT FROM AUTHOR]

Glycogen storage disease type 2 (Pompe's disease) is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leads to progressive generalised myopathy, cardiomyopathy and death in early infancy because of respiratory muscle weakness. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Here we report a 3.5 month-old girl presenting with respiratory failure due to pneumonia and hypotonia, who was later diagnosed as Pompe disease. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme included in the pentose phosphate pathway with a cellular protective effect against oxidative stress. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which is usually triggered by an exogenous agent such as drugs, infections and certain nutrients. Some G6PD variants cause chronic hemolysis, leading to congenital non-spherocytic hemolytic anemia. The disorder is inherited by X-linked transmission. Homozygote females and males are the cases at risk for G6PD deficiency. A 26-month-old girl presented with hemolytic anemia after eating broad beans. She was diagnosed with G6PD deficiency and interestingly the G6DP level was also decreased in her father. There was no history of hemolytic anemia in the father despite multiple exposure to broad beans. We aimed to underline the different types of clinical expressions of G6PD deficiency in different genders by presenting this case report. [ABSTRACT FROM AUTHOR]

Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ., Methods: Patients who underwent a THRB gene analysis between September 2019 and September 2023 were retrospectively reviewed., Results: 50 patients with the clinical features of RTHβ syndrome or a family history of an index case were included. A total of 8 different heterozygous pathogenic/likely pathogenic missense variants (3 novel) were detected in the THRB gene in 30 patients from 8 unrelated families. Although most patients with RTHβ were asymptomatic, 7 patients had various symptoms. Seven patients had received various treatments before diagnosis. Thyroid autoantibody was positive in 23% of all cases with a variant, and goitre was detected in 56% of children with a variant. While thyroid nodules were detected in 7 adult patients, two adult patients were being followed with papillary thyroid cancer. One child patient had attention-deficit disorder, learning disability, and type 1 diabetes mellitus. Of the 20 patients without a variant, TSHoma was detected in one., Conclusion: The present study, provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the THRB gene variant database with 3 novel variants. Although most patients with RTHβ are asymptomatic, molecular genetics analysis of the THRB gene and regular follow-up for potential concurrent autoimmune diseases and thyroid cancer is warranted.

Objectives: The effects of thyroid hormones on body composition are well-known. We aimed to examine the body composition of children with and without Hashimoto's thyroiditis (HT) by bioelectrical impedance analysis (BIA) while they were still euthyroid., Methods: Between the ages of 5 and 18, 53 girls and 12 boys in each group, 65 children with HT, and 65 healthy children were included in this study. The Tanita MC-780 MA model was used to evaluate body composition parameters. These are fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water (TBW), phase angle, the ratio of muscle mass to fat mass (MFR), basal metabolic rate (BMR), and sarcopenic index (SI). Weight, height, body mass index standard deviation scores (SDSs), and pubertal status were examined. Additionally, TSH, Free-T4, Free-T3, Anti-TPO, Anti-Tg, serum lipid levels, and thyroid volumes were compared., Results: We observed that TBW (27.5 ± 7.5 kg vs. 24.8 ± 6.6 kg; p=0.029) and BMR (1,403 ± 253 kcal vs. 1,324 ± 200 kcal; p=0.049) were higher in the HT group. These differences are due to differences in age and muscle mass in the male group. The FM, FFM, MM, BM, MFR, SI, and phase angle scores did not differ between females with and without HT in euthyroid children by the BIA method., Conclusions: There is no significant change in body composition in euthyroid females with HT at admission., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Background: Symptomatic dermographism (SD) is the most common form of chronic inducible urticaria. SD disease activity increases with food intake in adult patients. Whether this is also so in children with SD is currently unknown. Objective: To assess children with SD for their disease activity by standardized provocation testing before and after eating. Methods: We subjected 44 children with SD (29 girls; median [interquartile range] age 12.5 years [8.3-15 years]), before and after eating, to standardized skin provocation testing with a dermographometer. Dermographometer scores were calculated based on responses evaluated at 1-minute intervals for 10 minutes and recorded as negative (-) or positive (+ to ++++). Clinical characteristics and urticaria control test scores were documented. Results: Dermographometer scores before eating were 2.3 of 4 on average and inversely correlated with urticaria control test scores. Dermographometer scores were higher after eating than before eating. Of 44 children with SD, 35 had increased dermographometer scores after eating and 9 patients had a postprandial increase of ≥1 point. Eating-induced increases in dermographometer scores were linked to earlier whealing in 17 of 35 patients, and differences in preprandial versus postprandial dermographometer responses were more pronounced at earlier than later time points after testing. Conclusion: Disease activity, as assessed by provocation testing, is increased in most pediatric patients with SD after eating. Future studies should explore the prevalence of food-exacerbated SD in larger pediatric SD populations. Most pediatric patients with symptomatic dermographism have higher disease activity, assessed by provocation testing, after eating as compared to before eating. Standardized provocation testing and trigger threshold assessments in children with symptomatic dermographism should be performed before and after eating. Knowledge of food-exacerbated disease may help patients with the management of their symptomatic dermographism.

Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother.The index case was a 12-year-old girl without obesity who presented with excessive hair growth, especially in the chest and back area, and hyperpigmentation on the back of the neck (acanthosis nigricans). Acanthosis nigricans was first observed at the age of 11 years. On physical examination, the patient had acanthosis nigricans and hypertrichosis with no acne. Systolic and diastolic blood pressure measurement was within the normal range for age and sex. Laboratory tests revealed fasting hyperglycemia, fasting and postprandial hyperinsulinemia, elevated HbA1c level, and biochemical hyperandrogenemia. Fasting plasma lipids were normal. A diagnosis of type A insulin resistance syndrome was considered, and INSR gene mutation analysis was performed. Next generation sequence analysis was performed with the use of primers containing exon/exon-intron junctions in the INSR gene, and a novel heterozygous c.3486&#95;3503delGAGAAACTGCATGGTCGC/p.Arg1163&#95;Ala1168del change was detected in exon 19 of the INSR gene. In segregation analysis, the same variant was detected in the patient's mother, who had a milder clinical phenotype.We reported a novel, heterozygous, p.Arg1163&#95;Ala1168del mutation in exon 19 of the INSR gene in a patient with type A insulin resistance syndrome, expanding the mutation database. The same mutation was associated with variable phenotypical severity in two subjects within the same family.