Band 30, Heft 9

Background: Data on the growth of diabetic children is conflicting. The aim of this study was to create and validate acceptable body mass index (BMI)-standardized percentiles and curves applied to Egyptian prepubescent diabetic children. Methods: The cross-sectional study comprised 822 prepubescent children with type 1 diabetes mellitus (T1DM), whose ages ranged from 3 years to 10 years±6 months. An anthropometric assessment for each child was performed: body weight, height and BMI were calculated (weight [kg]/height [m 2 ]), and glycated hemoglobin levels were determined. Means±standard deviations (SDs) and the smoothed percentiles of the BMI from age 3–10 years, by sex, for total, controlled and uncontrolled diabetic children were calculated. Comparisons of the 50th percentiles for the controlled and uncontrolled diabetic children, by sex, with those of the Egyptian and World Health Organization (WHO) growth curves were made. Results: For controlled diabetic males and females, the 50th percentile BMI was higher than those of the Egyptian and WHO growth curves, while differences in BMI were recorded for uncontrolled diabetic males and females. For uncontrolled diabetic males, the BMI was lower than the standard Egyptian and WHO growth curves up to 5 years of age, after which it became higher than the standard WHO and lower than the standard Egyptian growth curves from 5 years up to 10 years of age. Contrary to that, the BMI of uncontrolled diabetic females was higher than the standard Egyptian and WHO growth curves up to 6.5 years, between the curves from 6.5 years up to 7.5 years and then became lower than both curves up to 10 years of age. Conclusions: Children with T1DM should use their own BMI percentiles and never be compared with normal healthy children.

Background: Living with type 1 diabetes, especially in developing countries, can feel overwhelming for parents and children because constant vigilance is required for proper care with an inadequacy of resources. Our aim was to investigate the frequency and risk factors of depressive symptoms in children and adolescents with type 1 diabetes. Methods: The study was conducted using epidemiologic studies Depression Scale Questionnaire for Children (CES-DC) on 86 patients with type 1 diabetes from the Diabetes Clinic in Alexandria University Children’s Hospital, Egypt. Logistic regression models were used to detect the predictors of depression. Results: In the current study 45 children (52.3%) had scores ≥15 indicating a depressive state. Children who had depression were found to have a significantly longer duration of diabetes (5.84±2.53 year), a higher mean total daily insulin dose (1.36±0.45 unit/kg), HbA 1c level (9.84±1.75) and were less frequently treated with a basal bolus insulin regimen (35.56%); p≤0.001. A multivariate logistic regression model showed that HbA 1c is the only significant predictor for depression (p<0.001). HbA 1c at a cutoff point of 8.6 could predict depression in type 1 diabetic children with specificity of 71.8%, sensitivity of 78.6%, (area under the curve [AUC]=0.8) and p-value ≤0.001. Conclusions: Children and adolescents with type 1 diabetes have high frequency of depressive symptoms in a developing country. Poor glycemic control is the most significant predictor for depression in these patients.

Background: Considering the role of different ethnical, cultural and geographical factors in health related quality of life (HRQOL) as well as the perception of different populations regarding various weight disorders, we aimed to evaluate the association between body mass index (BMI) and HRQOL in Iranian children and adolescents. Methods: This cross-sectional study was part of the Weight Disorders Survey of the CASPIAN-IV study. During this study, students aged 6–18 years from urban and rural areas of 30 provinces of Iran were selected. HRQOL of the students was evaluated by using the Persian version of the Pediatric Quality of Life inventory (PedsQL™ 4.0™ 4.0) Generic Core Scales. The mean of total HRQOL and its subscales were compared in underweight, normal weight, overweight and obese students. Results: The mean of total HRQOL, physical functioning and psychological functioning scores in the total population were 83.31, 84.25 and 82.79, respectively. The mean of the total HRQOL score and the psychosocial score were significantly lower in underweight students aged 6–12 years than in other groups (p<0.05). The mean of the total HRQOL score and psychosocial score were significantly lower in obese students aged 13–18 years than in other groups (p<0.05). Overweight and obesity was negatively associated with total HRQOL, psychosocial and school functioning subscales (p<0.05). There was a significant negative association between emotional functioning and obesity (p<0.05). Conclusions: The findings or this study support the importance of personal perception and cultural norm roles in HRQOL. Given the association between weight disorders and psychosocial health, it is suggested that social and cultural factors have a more crucial role in the HRQOL of children and adolescents.

Background: Several endocrine disruptors (including phthalates) are considered to be a cause of obesity. However, the current evidence has not conclusively established an association between phthalates and metabolic abnormalities, especially in children. The objective of the study was to evaluate the association between urinary phthalate metabolites and metabolic abnormalities in obese Thai children and adolescents. Methods: This cross-sectional case-control study was conducted in participants aged 7–18 years and divided into two groups: normal weight and overweight/obesity. Spot urine concentrations of two phthalate metabolites (monomethyl phthalate [MMP] and mono-n-buthyl phthalate [MBP]) were measured by high performance liquid chromatography (HPLC). Anthropometric data, including weight, height, body mass index (BMI), waist circumference (WC), hip circumference (HC), waist-to-hip ratio (WHR) and waist-to-height ratio (WHTR), were measured and calculated. Fasting plasma glucose, insulin, HbA 1c , lipid profiles and hepatic transaminase were analyzed, and insulin resistance indices were calculated. Results: One hundred and fifty-five participants were included. The median MMP level in the normal weight and the overweight/obesity groups were 0 (0, 459.83) and 0 (0, 1623.50) μg/g Cr, respectively (p=0.933). The median MBP level in the normal weight and the overweight/obesity groups were 233.6 (118.1, 633.62) and 206.94 (7.4, 427.7) μg/g Cr, respectively (p=0.083). After adjusting for age, gender and puberty, there was no correlation between MBP and all anthropometric data and metabolic profiles. Participants with hypertriglyceridemia had lower MBP levels than those with normal TG level. MMP levels were not significantly different between the participants with normal and abnormal weight of all metabolic parameters. Conclusions: Participants with hypertriglyceridemia had lower MBP levels than those with normotriglyceridemia. However, it cannot show the correlation between phthalate and metabolic parameters.

Background: This study aimed to examine the nutritional effect of breast feeding on healthy term infants by using urinary metabolome analysis. Methods: Urine samples were collected from 19 and 14 infants at 1 and 6 months, respectively. Infants were separated into two groups: the breast-fed group receiving <540 mL/week of their intake from formula (n=13 at 1 month; n=9 at 6 months); and the formula-fed group receiving no breast milk (BM) (n=6 at 1 month; n=5 at 6 months). Urinary metabolome analysis was performed using capillary electrophoresis-time-of-flight mass spectrometry (CE-TOF/MS). Results: A total of 29 metabolites were detected by CE-TOF/MS metabolome analysis in all samples. Urinary excretion of choline metabolites (choline base solution, N , N -dimethylglycine, sarcosine, and betaine) at 1 month were significantly (p<0.05) higher in breast-fed infants than in formula-fed infants. However, choline metabolites were not significantly different between the groups at 6 months. Urinary excretion of lactic acid in breast-fed infants at 1 and 6 months was significantly lower than that in formula-fed infants. Urinary l(−)-threonine and l-carnosine excretion at 1 month was significantly lower in breast-fed infants than in formula-fed infants, but it was not significantly different between the groups at 6 months. Conclusions: The type of feeding in early infancy affects choline metabolism, as well as lactate, threonine, and carnosine levels, in healthy term infants. Urinary metabolome analysis by the CE-TOF/MS method is useful for assessing nutritional metabolism in infants.

Background: Most of the studies investigating the correlation between the atherogenic index of plasma (AIP) and cardiometabolic risk factors have been conducted with adults, while only a limited number of related studies that involved children and adolescents has been conducted. The purpose of this study is to assess the correlation between the AIP and other cardiometabolic risk factors in adolescents. Methods: This study was conducted with 310 girls and 90 boys who were between the ages of 6 and 18 years. After a 10-h fasting period, the biochemical values of the participants were measured in the morning. The anthropometric measurements of the participants were also taken. The AIP was calculated as Log10 (triglycerides/high density lipoprotein-cholesterol; TG/HDL-C). Results: In adolescents between the ages of 12 and 18, the mean AIP of the group with TG ≥130 mg/dL was significantly higher than that of the groups with TG of 90–129 mg/dL and <90 mg/dL. There was a strong correlation between TG and AIP for both boys and girls among the children and adolescents, while there was a strong correlation between the TG/HDL-C ratio and TG only in the boys who were within the 6–11-year-old age group. Conclusions: An increase in AIP is associated with cardiovascular risk factors in children and adolescents other than those seen in adults. Based on the TG/HDL-C ratio, the AIP may be superior as a complementary index in the assessment of cardiometabolic risks in children and adolescents.

Background: The aim of the study was to evaluate the cardiovascular and metabolic risk profile in pediatric patients with congenital adrenal hyperplasia (CAH). Methods: A cross-sectional study was performed in 27 CAH patients (8–16 years). Blood samples were taken to evaluate circulating cardiovascular risk (CVR) markers. Insulin resistance (IR) was evaluated by homeostatic model assessment (HOMA)-IR. Blood pressure (BP) was evaluated by office BP measurements and 24-h ambulatory BP measurements (24-h ABPM). Dual energy X-ray absorptiometry (DXA) scans were performed in patients >12 years. Results: Body mass index (BMI) standard deviation score (SDS) was elevated (0.67), with seven patients being overweight and four obese. DXA scans showed percentage body fat SDS of 1.59. Office BP levels were higher than reference values. Twenty-four hour ABPM showed systolic hypertension (n=5), while 11 patients had a non-dipping BP profile. HOMA-IR was >75th percentile in 12 patients. Conclusions: CAH patients develop an unfavorable CVR profile already in childhood with increased BMI, increased fat mass, elevated BP levels, a non-dipping BP profile and IR compared to population reference values.

Background: The aim of the present study was to investigate the effect of povidone-iodine (PVP-I) application at delivery on maternal urinary iodine concentration (UIC) and neonatal thyrotropin concentration. Methods: In this cross-sectional study, urine samples were collected from each pregnant woman after admission to the hospital and before routine application of the PVP-I for delivery preparation and after delivery at time of screening for congenital hypothyroidism. A heel-prick blood sample was taken from all newborns. Results: A total of 394 pregnant women at time of delivery participated in this study. Median (interquartile range [IQR]) maternal UIC values were 120 (105–157) and 253 (126–470) μg/L before and after delivery, respectively (p<0.001). No significant correlations were observed between maternal UIC before and after delivery and neonatal thyrotropin levels. Conclusions: Application of PVP-I significantly increased UIC in postpartum mothers; however, thyrotropin concentration in neonates, whose mothers had adequate UIC, was within the normal range.

Background: The proportion of newborns recalled during neonatal screening programs for congenital hypothyroidism (CH) varies substantially by country and may be higher in settings where povodine iodine (PVP-I) is used during delivery. We assessed this hypothesis by substituting PVP-I for chlorhexidine (CHL) and evaluated the reduction in the recall rate of the Irainian newborn screening program. Methods: This study investigated 2282 neonates of mothers admitted to a local hospital for delivery between December 2012 and October 2013. We measured thyorid stimulating hormone (TSH) levels in heel-prick blood specimens of infants, aged between 3 and 5 days, born to mothers who received PVP-I (phase I) and those who received CHL after withdrawal of PVP-I from obstetric procedures (phase II). Then we compared the median TSH levels and the recall rate based on a TSH level ≥5 mU/L. Results: Of 2282 cases, 1094 infants were born to mothers exposed to PVP-I during phase I (PVP-I group) and 1188 ones were born to mothers exposed to chlorhexidine in phase II (CHL group); 6.56% of the PVP-I group and 1.91% of the CHL group were recalled later during screening (p<0.001). The median TSH level was significantly higher in the PVP-I group compared to the CHL group (1.35 vs. 1.00, p<0.001). Conclusions: Replacement of iodine-containing antiseptics by iodine-free ones, during delivery resulted in a significant reduction in the recall rate of the Iranian screening program for CH.

Background: Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed. Methods: Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay. Results: In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively. Conclusions: Applying the DBS-based TNGS assay for the accurate and rapid diagnosis of inborn errors of metabolism (IEMs) is feasible, competent, and advantageous, enabling a simplified TMS screening-based, TNGS assay-integrated newborn screening scheme highlighting an efficient, executable, and one-step screening-to-diagnosis workflow.

Background: It is thought that growth hormone (GH) therapy success depends on the patient’s adherence to their treatment regimen, but an optimal approach to improve adherence has not yet been established. Methods: To evaluate the effect of patient choice of a GH device on adherence to GH therapy, we carried out a retrospective longitudinal study of 46 GH deficient patients (24 boys, mean age of commencing GH therapy: 7.70±3.12 years) treated with recombinant GH therapy for 3 years, either with or without patient choice (n=28, 18, respectively). Results: The group comparison study for adherence, which evaluated the frequency of missed injections based on self-report, revealed that patient choice reduced the proportion of patients with low adherence 3 years after commencing GH therapy (33.3%–7.1%, p=0.042). Furthermore, this longitudinal study revealed that the patients with choice yielded significantly greater height standard deviation scores (SDS) (ΔHt SDS: 1.34±0.44 vs. 0.92±0.57, p=0.020) and insulin-like growth factor 1 (IGF-1) SDS (ΔIGF-1 SDS: 2.49±0.75 vs. 1.89±1.13, p=0.038) than those without choice. Conclusions: These results indicate that patient choice might improve adherence to GH therapy, which improves the therapeutic effects of GH therapy.

Background: Hyperparathyroidism (HPT) is a rare disease in the pediatric population, and optimal management may be unclear if it is due to an occult parathyroid adenoma. We present a case report of a pediatric patient with an occult, ectopic, supernumerary, parathyroid adenoma. Case presentation: A 13-year-old female who initially presented with anxiety was diagnosed with HPT. Preoperative imaging and bilateral neck exploration with four-gland biopsy were negative for any parathyroid adenoma. Postoperative MRI identified a thymic mass. She subsequently underwent video-assisted thoracoscopic thymectomy with resection of an intrathymic parathyroid adenoma. Conclusions: The diagnosis of pediatric HPT is increasing. Supernumerary or occult parathyroid adenomas are rare and add complexity to presurgical planning and management. Our case represents the rare occurrence of a pediatric ectopic supernumerary occult parathyroid adenoma treated with a two-stage approach utilizing multiple imaging studies. We provide a review of the pathology and propose an algorithmic approach to manage these complex patients.

Background: Fetal goitrous hypothyroidism is mainly caused by maternal treatment of Graves’ disease. Fetal goiter sometimes compresses the trachea and esophagus and may cause polyhydramnios, preterm labor, complications of labor and delivery, and neonatal respiratory disorder. Case presentation: We report a case of fetal goitrous hypothyroidism in which the mother had Graves’ disease, which was treated with propylthiouracil. Intra-amniotic levothyroxine (L-T 4 ) administration was performed, and the fetal goiter decreased in size. A female infant was delivered without goiter and complications. Thyroid function was within the normal range. Conclusions: Previous reports on fetal goitrous hypothyroidism that was treated with intra-amniotic L-T 4 showed that patients who had intra-amniotic L-T 4 administration were likely to have a good outcome compared with patients who did not have L-T 4 . Thyroid function of the mother and fetus should be carefully monitored and treated appropriately.

Background: Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult. Case presentation: We report a 5-year-old girl with sitosterolemia who presented with xanthomas at 23 months of age. Her total cholesterol was 868 mg/dL, and her plasma sitosterol level was 9.48 mg/dL. Direct sequencing detected a homozygous mutation in gene ABCG5 (p.Arg389His). Echocardiographic examination revealed that the carotid artery intima media thickness (cIMT) was 0.4 mm with heterogenous hyperechogenicity inside the arterial wall. She was treated using dietary therapy and ezetimibe, which effectively lowered her sitosterol levels. After 3 years of treatment, her cIMT was stable in diameter and arterial wall echogenicity had improved. Conclusions: Sitosterolemia is a unique disorder in which it is difficult to avoid premature atherosclerosis because of high sitosterol levels. cIMT measurement with arterial wall assessment may improve management.

Background: Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia and brain damage. Therapeutic strategies to avoid near total pancreatectomy in patients who are unresponsive to maximum doses of diazoxide and octreotide remain to be identified, although sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used successfully to treat diffuse type CHI. Case presentation: We used sirolimus to treat three infants with diffuse CHI. Diagnosis was confirmed clinically, biochemically and by genetic testing. Homozygous mutations in KCNJ11 , ABCC8 and KCNJ11 were identified in infants 1, 2 and 3, respectively. Each infant had received the therapy for at least 2 months with close monitoring of glycemic response, serum insulin and C-peptide. None of the infants responded to the therapy. Conclusions: We conclude that sirolimus is less effective in the treatment of diffuse CHI in patients with severe mutations in the homozygous state compared with those with the mutations in the heterozygous.