Evaluation of the effect of obesity, dietary glycemic index and metabolic profiles on the cardiovascular risk in children with classical phenylketonuria.

OBJECTIVES: To compare the glycemic index(GI),obesity,echocardiographic,and arterial stiffness measurements with the healthy control group to evaluate the cardiovascular risk of pediatric classical phenylketonuria(PKU). METHODS: The study was a prospective observational,involving 104 pediatric volunteers between 2019 and 2020.Two groups were formed:the PKU patient group and the healthy control group.These two groups were further divided into three subgroups:obese,overweight,and normal weight.The patients' anthropometric measurements,body fat analysis,biochemical analysis, GI and glycemic load(GL),arterial stiffness measurements,and echocardiographic findings were recorded. RESULTS: The PKU patient group's glucose,total cholesterol,LDL,and HDL values were significantly lower than the healthy control group(p = 0.010 for glucose and p = 0.001 for total cholesterol,LDL and HDL).Triglyceride levels were higher in the PKU patient group than in the healthy controls(109.6 vs. 76.7 mg/dl,p = 0.001). GI and GL were significantly lower in the PKU patient group than in the healthy control group(GI 453 vs. 392.9,p = 0.017 and GL 101.1 vs. 85.5,p = 0.036).Left ventricular mass(LVM)-z-score and LVM index were significantly higher in the PKU group than in the healthy control group(LVM z-score 0.9 vs. 0.5,p = 0.014 and LVM index 38.9 vs. 32.7 g/m2.7,p = 0.001). A moderately statistically significant positive correlation was found between the mean phenylalanine(phe) value and pulse wave velocity(PWV) among the PKU patient groups(R: 0.477,p < 0.001).A moderately statistically significant positive correlation was also found between waist circumference and PWV in the PKU patient group(R:0.541, p < 0.001). CONCLUSIONS: Our study found that close follow-up of phe levels and PWV is more critical than obesity, GI, and GL in the cardiovascular evaluation of classical PKU patients.A large number of multicenter pediatric studies are needed in this area.

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

PURPOSE: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. METHODS: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections. CRISPR/Cas9 was used to generate mice carrying the p.Leu483Phe pathogenic variant in the conserved murine Rnpc3 RRM2 domain. RESULTS: We described 15 patients from 9 pedigrees with biallelic pathogenic variants in RNPC3, encoding a specific protein component of the minor spliceosome, which is associated with a hypopituitary phenotype, including severe growth hormone (GH) deficiency, hypoprolactinemia, variable thyrotropin (also known as thyroid-stimulating hormone) deficiency, and anterior pituitary hypoplasia. Primary ovarian insufficiency was diagnosed in 8 of 9 affected females, whereas males had normal gonadal function. In addition, 2 affected males displayed normal growth when off GH treatment despite severe biochemical GH deficiency. In both mouse and human embryos, Rnpc3/RNPC3 was expressed in the developing forebrain, including the hypothalamus and Rathke's pouch. Female Rnpc3 mutant mice displayed a reduction in pituitary GH content but with no reproductive impairment in young mice. Male mice exhibited no obvious phenotype. CONCLUSION: Our findings suggest novel insights into the role of RNPC3 in female-specific gonadal function and emphasize a critical role for the minor spliceosome in pituitary and ovarian development and function.

Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.

BACKGROUND: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings. CLINICAL OBSERVATION: An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p. R250X (c.748C>T] leading to premature termination of translation was identified in the MMADHC gene, which was compatible with CblD defect. CONCLUSION: In the presence of increased mean corpuscular volume and other hematologic manifestations, such as leukopenia, thrombocytopenia, and megaloblastic anemia, with severe nonspecific or mild neurologic symptoms, Cbl synthesis defects should be considered.

Urinary levels of pyridinoline and deoxypyridinoline and bone mineral density in children with type 1 diabetes mellitus.

OBJECTIVE: There is still controversy over the impact of diabetes mellitus (DM) on bone mass in children. Pyridinoline (Pyr) and deoxypyridinoline (DPyr), which stabilize the collagen chains within the extracellular matrix, are known as specific bone turnover markers. The aim of this study was to investigate the relationship between urinary Pyr and DPyr excretions and bone mineral density (BMD) in children with type 1 DM. METHODS: Serum levels of Ca, phosphorus (P), magnesium (Mg), and parathormone (PTH), alkaline phosphatase (ALP) activity, and urinary excretions of Pyr and DPyr were evaluated in 50 diabetic and 130 healthy control subjects aged between 7 and 15 years. The BMD was measured using DEXA at the lumbar vertebrae 2-4. RESULTS: Serum levels of Ca, P and PTH, and BMD were similar between the two groups (p > 0.05). The serum ALP activity was significantly higher in diabetics than in healthy subjects (257.7 ± 86.5 vs. 188.2 ± 61.8, p < 0.05, respectively). Both urinary Pyr and DPyr excretions were significantly higher in diabetic subjects compared to control subjects (127.4 ± 95.5 vs. 88.7 ± 63.7, p < 0.05, respectively, and 23.6 ± 12.7 vs. 17.2 ± 9.6, p < 0.05, respectively). The urinary excretions of Pyr and DPyr were similar in male and female subjects within both groups. CONCLUSION: The urinary excretions of Pyr and DPyr are higher in diabetic subjects than in healthy controls, suggesting the presence of increased bone turnover in diabetic patients, but we could not observe any negative effect of childhood diabetes on BMD. These results may suggest that diabetic patients are at risk for a decreased peak bone mass.

Long-term efficacy of lipoprotein apheresis in the management of familial hypercholesterolaemia: Application of two different apheresis techniques in childhood.

Lipoprotein apheresis is used to treat patients with familial hypercholesterolemia (FH). The aim of the present study is to clarify the lipoprotein apheresis procedure performed by cascade filtration (CF) or double filtration plasmapheresis (DFPP) on pediatric patients in terms of side effects, laboratory results and cardiovascular follow-up. Data of ten pediatric patients were analyzed retrospectively. The average age of the patients was 12.1 ± 3.4 years. Percentage of long term reduction of low density lipoprotein cholesterol was 62.35 ± 7.19% (n = 3) for CF and 63.66 ± 6.63% (n = 3) for CF plus DFPP, 64.79 ± 8.29% (n = 7) for DFPP. Cardiovascular disease was not detected in thirty percent of the patients. Lesions remained stable in fifty percent of patients with heart valve lesions. Valvular lesions worsened in twenty percent of patients. Lipoprotein apheresis can be used effectively and successfully in pediatric patients as well as adults for homozygous FH.

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.

Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous symptoms with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report the clinical, biochemical and genetic features of a 4-year-old boy who presented with afebrile seizure and photophobia. Genomic DNA was obtained from peripheral blood leukocytes from the whole family. Sequencing analysis was performed using the MiSeq next-generation sequencing platform. Sequencing of TAT indicated two new homozygous mutations p.L312P (c.935T>C) and p.T408M (c.1223C>T) for the proband and his asymptomatic sister. During a 2 year follow-up period, the patient had overall poor compliance with protein-restricted diet, but his asymptomatic sister had good compliance with the diet. Cognitive function of the patient worsened steadily, but his asymptomatic sister maintained normal mental status. Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as mental disability.

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.

OBJECTIVES: The purpose of this study was to characterize patients who were diagnosed with glucose transporter protein 1 deficiency syndrome (Glut1D), and also to assess the efficacy of ketogenic diet (KD) therapy on seizure control, cognitive functions, and other neurological disorders. PATIENTS AND METHODS: We studied six unrelated patients with the classical phenotype of Glut1D, focusing on clinical and laboratory features, the KD therapy and outcome over the 25-month follow-up period. RESULTS: Five patients became seizure-free with the onset of ketosis, and anticonvulsants were discontinued. Other neurological features such as ataxia, spasticity, and dystonia showed a less striking improvement than seizure control. There was no significant change in the intelligence quotient (IQ) level or microcephaly. In all patients, alertness, concentration, motivation, and activity resulted in a moderate improvement of variable degree. The early-onset adverse effects of KD were observed in five patients. The KD regimen failed in one patient, therefore, his diet was changed with an alternative to KD. CONCLUSIONS: Treatment with KD resulted in a marked improvement in seizures and cognitive functions but its effect appeared to be less striking on the other neurological disorders of the patients. When the classic KD is not tolerated, an alternative to KD may be helpful.

The endocrine disruptor bisphenol A may play a role in the aetiopathogenesis of polycystic ovary syndrome in adolescent girls.

AIM: Experimental in vitro studies have shown that bisphenol A affects steroidogenesis, folliculogenesis and ovarian morphology. The aim of this study was to investigate the role of the endocrine disruptor bisphenol A in the aetiopathogenesis of polycystic ovary syndrome (PCOS) in adolescents and its relationship with metabolic parameters, insulin resistance and obesity in this population. METHODS: A total of 112 girls with PCOS and 61 controls between 13 and 19 years of age were enrolled in the study. Serum bisphenol A levels were measured by high-pressure liquid chromatography. An oral glucose tolerance test was also performed. RESULTS: Adolescents with PCOS had markedly increased serum bisphenol A levels (mean: 1.1 ng/mL 95% CI: 1.0-1.2) than controls (mean: 0.8 ng/mL 95% CI: 0.6-0.9, p = 0.001). When we compared the subgroups according to obesity, the main factor determining the significant increase in bisphenol A was the presence of PCOS, but not obesity (p = 0.029). Bisphenol A was significantly correlated with total testosterone (r = 0.52), free testosterone (r = 0.44), dehydroepiandrosterone sulphate (r = 0.37) and Ferriman-Gallwey score (r = 0.43) (p < 0.05). CONCLUSION: Adolescents with PCOS had higher serum bisphenol A levels than controls, independent of obesity. Bisphenol A concentrations were significantly correlated with androgen levels, leading us to consider that bisphenol A might play a role in the aetiopathogenesis of PCOS in adolescents.

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases. The male patient, born from a first-degree cousin marriage, exhibited several symptoms, including left undescended testis, micropenis, penile chord, left sensorineural hearing loss, and gynecomastia. He reported micropenis as a concern at the age of 13.5 years. His hormone profile revealed high levels of serum 17-hydroxyprogesterone, progesterone, and pregnenolone. In this case with a 46 XY karyotype, suspicions arose regarding Cytochrome P450 oxidoreductase deficiency due to ambiguous genitalia and an atypical hormone profile. Analysis unveiled two distinct homozygous and pathogenic variants in the CYP21A2 and CYP17A1 genes. Notably, mineralocorticoid precursors escalated, while cortisol and sex steroid precursors decreased during the high (250 mcg) dose ACTH stimulation test. The mutation c.1169C > G (p.Thr390Arg) in CYP17A1, which is the second documented case in literature, stands out due to its unique set of accompanying features. Mutations occurring in CYP21A2 and CYP17A1 result in complete or partial enzyme deficiencies, and the detection of homozygous mutations in two different enzyme systems within the steroidogenic pathway is noteworthy.

Fatty liver is a good indicator of subclinical atherosclerosis risk in obese children and adolescents regardless of liver enzyme elevation.

AIM: To investigate the presence of association between nonalcoholic fatty liver disease (NAFLD) and subclinical atherosclerosis using carotid intima media thickness (c-IMT) in obese children and adolescents. Additionally, we wished to investigate the relationship between fatty liver and elevated liver enzymes. METHODS: A total of 157 obese patients (78 boys and 79 girls, mean age: 11.3 ± 2.6 years, age range: 6-16 years) were enrolled in the study. Aminotransferase, fasting glucose and lipid levels were determined. An oral glucose tolerance test was performed. The c-IMT was measured. Infectious and metabolic causes of elevated liver enzymes were excluded. The diagnosis of NAFLD was based on ultrasound scan. RESULTS: Obese patients with NAFLD had markedly increased carotid IMT (mean: 0.48 mm, 95% CI: 0.47-0.49) than those without NAFLD (mean: 0.45 mm 95% CI: 0.44-0.45, p < 0.001). The presence of NAFLD significantly increased c-IMT whether the patient had elevated liver enzyme or not (ANOVA, p < 0.001). In a multiple-regression model, only the presence of NAFLD was associated with increased c-IMT (ß = 0.031, SE (ß) = 0.008, p < 0.001). CONCLUSION: Obese children and adolescents with NAFLD are at risk of early atherosclerotic changes. As liver function tests are not sufficient to identify patients with fatty liver, ultrasonographic evaluation of NAFLD might be considered in all obese children and adolescents.

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation

Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other accompanying phenotypic features in the 22 cases described so far. We present a male patient with neonatal diabetes, CH, congenital glaucoma, developmental delay, and facial dysmorphism. During the patient's 17-year follow-up, no signs of exocrine pancreatic insufficiency, liver and kidney diseases, deafness, osteopenia, and bone fracture were observed. A homozygous exon 10-11 deletion was detected in the GLIS3 gene. We report one of the oldest surviving GLIS3 mutation case with main findings of neonatal diabetes and CH syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome.

Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.

Hemophagocytic syndromes such as hemophagocytic lymphohistiocytosis (HLH) are life-threatening hyperinflammatory conditions caused by inherited or acquired immune disorders. Awareness of the clinical symptoms and diagnostic criteria for hemophagocytic syndromes is crucial to start timely life-saving therapy. We present a case of a 4-month-old boy presenting with HLH. However, the patient was subsequently diagnosed with biotinidase deficiency and was successfully treated with biotin-replacement therapy, upon which the hemophagocytic syndrome ceased. Subsequent laboratory evaluations revealed normal lymphocyte cytotoxicity and no mutations in genes associated with familial HLH were found. Biotinidase deficiency should be considered as a differential diagnosis of patients fulfilling HLH criteria.

The absence of insulin resistance in metabolic syndrome definition leads to underdiagnosing of metabolic risk in obese patients.

This study explores in a group of obese children and adolescents aged 10 to 16 years, the prevalence of metabolic syndrome (MS) according to the criteria of International Diabetes Federation (IDF). In addition, the prevalence of insulin resistance (IR) was investigated to find correlations between MS and IR. IDF definition was compared to a modified WHO definition. A total of 159 obese patients (74 male and 85 female; median age 12.7 years) were included in the study. Anthropometric measurements, blood pressure, and serum fasting lipids were evaluated. An oral glucose tolerance test (OGTT) was performed, and serum glucose and insulin levels were measured at 0, 30, 60, 90, and 120 min. Homeostasis model assessment of insulin resistance (HOMA-IR), quantitative insulin sensitivity check index (QUICKI), fasting glucose/insulin ratio (FGIR), Matsuda index, and total insulin levels during OGTT were calculated. For the IR diagnosis, we used cutoff values described in previous publications (HOMA-IR of >3.16, QUICKI of <0.357, FGIR of <7, and/or the sum of insulin levels during OGTT of >300 mIU/mL). MS prevalence, defined according to IDF criteria, was 34.6 %. Using the IDF definition, there was no statistically significant difference for the surrogate IR indices between patients with or without MS (QUICKI, 94.5 vs. 83.7 %), FGIR (81.1 vs. 78.8 %), HOMA-IR (70.9 vs. 63.5 %), and total insulin levels during OGTT (61.8 vs. 51.9 %). The Matsuda index values, the prevalence of fasting hyperinsulinemia, and impaired glucose tolerance were also similar in these two groups. In conclusion, IR was prominent in obese patients with and without MS. IDF definition of MS fails to discover individuals with IR, unless it is specifically investigated.

Successful treatment of homozygous familial hypercholesterolemia using cascade filtration plasmapheresis.

OBJECTIVE: The aim of this study was to report the efficacy of low-density lipoprotein cholesterol (LDL-C) apheresisusing a cascade filtration system in pediatric patients with homozygous familial hypercholesterolemia (FH), and toclarify the associated adverse effects and difficulties. MATERIAL AND METHODS: LDL-C apheresis using a cascade filtration system was performed in 3 pediatric patientswith homozygous FH; in total, 120 apheresis sessions were performed. RESULTS: Cascade filtration therapy significantly reduced the mean LDL-C values from 418 ± 62 mg/dL to 145 ± 43 mg/dL (p= 0.011). We observed an acute mean reduction in the plasma level of total cholesterol (57.9%), LDL-C (70.8%),and high-density lipoprotein cholesterol (HDL-C) (40.7%). Treatments were well tolerated. The most frequent clinicaladverse effects were hypotension in 3 sessions (2.5%), chills (1.7%) in 2 sessions, and nausea/vomiting in 3 sessions(2.5%). CONCLUSION: Our experience using the cascade filtration system with 3 patients included good clinical outcomes andlaboratory findings, safe usage, and minor adverse effects and technical problems. CONFLICT OF INTEREST: None declared.

Identifying the effects of excess weight, metabolic syndrome and insulin resistance on liver stiffness using ultrasound elastography in children.

BACKGROUND: Metabolic syndrome (MetS) and insulin resistance (IR) are known predictors of nonalcoholic fatty liver disease (NAFLD) which is one of the significant comorbidities of obesity. Obese children with MetS and IR are reported to be more likely to have advanced liver fibrosis compared to those without MetS or IR. The aim of this study is to determine the effects of excess weight, MetS and IR on liver fibrosis assessing liver stiffness in children using ultrasound elastography and compare gray scale ultrasonographic findings of hepatic steatosis (HS) with liver fibrosis. METHODS: The study group involved 131 overweight/obese children. The control group involved 50 healthy lean children. Groups were adjusted according to body mass index (BMI) and BMI-standard deviation scores (SDS). Liver stiffness measurements which are expressed by shear wave velocity (SWV) were performed for each individual. The study group was further subgrouped as children with MetS and without MetS, with IR and without IR. RESULTS: The mean SWV of liver was 1,07 ± 0,12 m/s in the control group and 1,15 ± 0,51 m/s in the study group. The difference was significant (p=0,047). SWV of liver was weakly correlated with age, BMI, BMI-SDS, Homeostatic Model Assessment-Insulin Resistance and high-density lipoprotein cholesterol. The mean SWV of the liver in the study group for children without MetS was 1,1 ± 0,44 m/s, with MetS was 1,23 ± 0,70 m/s. The difference was not significant (p=0,719). The mean SWV of the liver in the study group for children without IR was 1,02 ± 0,29 m/s, with IR was 1,24 ± 0,61 m/s. The difference was not significant (p=0,101). In multivariate regression analysis, the only independent factor affecting liver stiffness was BMI-SDS (OR:2,584, 95% CI: 1,255- 5,318, p=0,010). CONCLUSIONS: Obesity itself, regardless of MetS or IR seems to be the major problem affecting liver stiffness in this study. However, large scale longitudinal studies might clarify this issue.

The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience.

OBJECTIVES: Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period. MATERIALS AND METHODS: Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study. The last visit data of the patients before and after the declaration of the pandemic, and the frequency of presentation of diabetes-related emergencies from one year after diagnosis of type 1 diabetes to the declaration of the pandemic, and from the declaration of the pandemic to the last visit after the pandemic declaration were compared. RESULTS: The total number of patients was 89, and 48 (53.9%) were boys. The mean (± standard deviation [SD]) age at diagnosis was 8.4 ± 3.7 years (boys 7.9 ± 3.6 years; girls 8.9 ± 3.9 years). There was no statistically significant difference when the SD values of the anthropometric measurements, and the glycosylated hemoglobin (HbA1c) and lipid profile tests were compared. However, the frequency of admission to the emergency service related to diabetes was significantly different. CONCLUSIONS: Although the pandemic did not significantly affect the metabolic and glycemic controls of the children with type 1 diabetes included in this study, an increase in the frequency of diabetes-related emergency admissions was noted.

The association of serum sialic acid with carotid intima-media thickness and anthropometric and metabolic parameters in obese children and adolescents.

BACKGROUND: Sialic acid (SA) has been shown to be a strong predictor of cardiovascular mortality in adults. No study in children regarding the association of SA with cardiovascular risks exists in the literature. AIM: We aimed to investigate the association of SA with anthropometric and metabolic parameters and its correlation with metabolic syndrome (MS) and carotid intima-media thickness (IMT) in obese children. METHODS: A total of 154 obese children were included in the study (74 females, 80 males; mean age 11.3 ± 2.6 years). Anthropometric measurements including body fat percentage (BFP) were recorded. Fasting lipids and SA levels were measured. The carotid IMT was evaluated with ultrasonography. RESULTS: We found a significant correlation between serum total SA (TSA) levels and BFP (r = 0.25, p = 0.01 in the whole group; r = 0.43, p = 0.00 in girls). The group with BFP ≥95th percentile had higher TSA levels than the group with BFP <95th percentile (p = 0.04). TSA and carotid IMT were weakly correlated (r = 0.20, p = 0.01), but the significance was lost after correcting for BFP. No correlations were found between TSA and other anthropometric measurements. TSA did not correlate with serum fasting glucose, lipids, insulin or homeostasis model assessment-insulin resistance. TSA levels were not different between children with or without MS. CONCLUSION: Serum TSA levels are significantly correlated with BFP in obese children.

Lupus nephritis in a child with type I diabetes mellitus.

Patients with type 1 diabetes (T1D) are at increased risk for developing other autoimmune diseases, most commonly autoimmune thyroiditis and celiac disease. Few reports have described the association of systemic lupus erythematosus and T1D in the literature. To the best of our knowledge, this is the first report of lupus nephritis in a child with T1D.

Evaluation of micronutrient levels in children and adolescents with obesity and their correlation with the components of metabolic syndrome.

BACKGROUND: Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls. METHODS: The study included 73 patients with obesity, 64 patients with metabolic syndrome and 71 healthy children (control group) aged 10 to 16 years. Physical examinations were performed, and waist circumference and systolic blood pressure measurements were recorded. Fasting blood glucose, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, total cholesterol, insulin, vitamin A, vitamin E, vitamin B1, vitamin B2, vitamin B6, vitamin B12, folic acid and free carnitine levels were analyzed. The homeostatic model of assessment-insulin resistance (HOMA-IR) index was calculated and recorded. RESULTS: The mean age of all patients was 11.9±2.6 years. The serum insulin level and HOMA-IR index were found to be significantly higher in the obesity and metabolic syndrome groups. No significant difference was found between the groups in terms of vitamin A, vitamin B6 and free carnitine levels. Significantly decreased vitamin E, vitamin B2, vitamin B12 and folic acid and increased vitamin B1 levels were observed in the obesity and metabolic syndrome groups. CONCLUSIONS: Compared to healthy children, children with obesity and metabolic syndrome may have varying degrees of micronutrient and vitamin deficiency due to poor and unbalanced eating habits. These deficiencies should also be considered in the treatment and follow-up of obesity and metabolic syndrome.

Neck circumference: an additional tool of screening overweight and obesity in childhood.

UNLABELLED: Obesity, particularly in the upper part of body, is a major health problem. Central obesity is related to cardiovascular disease and metabolic disorders. There are various techniques for assessing upper body fat content for the overweight and obese subjects other than waist circumference (WC). We tried to find out if neck circumference (NC) alone can be used to assess overweight and obesity. Four hundred twelve overweight and obese patients (208 girls and 204 boys) and 555 healthy children (284 girls and 271 boys) aged 6-18 years were recruited for this present study. There were significant and positive correlations between BMI-WC, BMI-NC, and WC-NC (p < 0.001). NC cutoffs for overweight and obesity were determined for each age and pubertal period. NC cutoffs of boys were increased from 28.0 to 38.0. This range was 27.0-34.5 for girls in the same range. We also calculated NC cutoffs for prepubertal and pubertal periods (respectively, 29.0 and 32.5 for boys and 28.0-31.0 for girls). CONCLUSION: NC is a reliable and easy to use tool to determine overweight and obesity in children, and NC is not as good as WC in determining overweight and obesity, both providing similar information.