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.

Clinical and Laboratory Characteristics of MODY (Maturity Onset Diabetes of Young) Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n=3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral antidiabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

Adherence to Growth Hormone Treatment in Children During COVID-19 Pandemic

Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported nonadherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the COVID-19 pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. Materials and Methods: This was a multicenter survey study that was sent to pediatric endocrinologists in pandemic period (June 2021-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, and missed dose data and the causes in the recent year (after the onset of the pandemic) were queried. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% nonadherence). Results: The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and "others" (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 mcg/kg, the annual growth rate was 1.15 SDS (min -2.74, max 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for nonadherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Nonadherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as nonadherence rate increased. Conclusion: During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports.

Mannose-binding lectin (MBL) levels in children with Hashimoto's thyroiditis.

OBJECTIVE: Hashimoto's thyroiditis (HT) was described many years ago, but the etiopathogenesis remains unclear. Mannose-binding lectin (MBL) initiates complement activation in the lectin pathway. We determined MBL levels in children with HT and the associations thereof with thyroid hormone and thyroid autoantibody levels. METHODS: Thirty-nine patients with HT and 41 controls were enrolled from the pediatric outpatient clinics. Subjects were grouped according to their thyroid functions: Euthyroid, marked hypothyroidism and clinical/subclinical hyperthyroidism. MBL levels were compared among these groups. Serum MBL levels of the subjects were determined using MBL Human ELISA kit. RESULTS: Serum MBL levels were studied in serum samples from the 80 subjects (48 (60.0%) females). MBL levels in HT and control groups were 50.787±34.718 and 50.593±44.28 ng/ml (p=0,983), respectively. In HT group, there was no significant difference in MBL levels between thyroid function groups (p=0.869). In addition, gender was not detected as a factor for serum MBL levels. Also we found negative correlation between WBC and serum MBL levels (r=-0.532; p=0.050). Otherwise there was no correlation between TSH, anti-TPO and anti-TG with serum MBL levels. CONCLUSION: MBL levels did not decrease in HT patients. Further research is needed to elucidate more fully any role for MBL in the development of autoimmune thyroid disease.

A Case of Short Stature Caused by a Mutation in the ACAN Gene.

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the ACAN gene. Case Presentation: A 3-year-3-month-old male patient was referred to us because of his short stature. Physical examination revealed proportional short stature, frontal bossing, macrocephaly, midface hypoplasia, ptosis in the right eye, and wide toes. When the patient was 6 years and 3 months old, his bone age was compatible with 7 years of age. The patient underwent clinical exome sequencing and a heterozygous nonsense c.1243G>T, p.(Glu415*) pathogenic variant was detected in the ACAN gene. The same variant was found in his phenotypically similar father. Our patient is the second case with ptosis. Discussion: ACAN gene mutation should be considered in the differential diagnosis of patients with idiopathic short stature. The development and widespread use of next-generation sequencing technology has increased the diagnostic and treatment possibilities.

Triponderal mass index is as strong as body mass index in the determination of obesity and adiposity.

OBJECTIVE: In determining obesity and body adiposity, triponderal mass index (TMI) is as strong an anthropometric measurement as body mass index (BMI). The aim of this study was to develop TMI reference values for Turkish children and adolescents and compare TMI with BMI according to body adiposity and obesity indices. METHODS: Data from the DAMTCA-II (Determination of Anthropometric Measurements of Turkish Children and Adolescents II) study were used in this cross-sectional study. Data from 4330 children (1931 boys, 2399 girls) ages 6 to 17 y were evaluated, and the TMI percentile values were produced. The predictive power of TMI and BMI for obesity and overweight were done for waist circumference, waist/height ratio, body fat percentage, and upper arm fat area, which are different parameters used to determine body adiposity. RESULTS: The 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th, and 97th TMI percentiles and mean values were calculated for all children's age and sex. TMI cutoff values were calculated by receiver operating characteristic analysis regarding waist/height ratio 0.5, waist circumference ≥90 percentile, arm fat area ≥85 percentile, and body fat percentage ≥85. TMI and BMI area under the curve values were similar for each of these four measurements. TMI was as robust an index as BMI in demonstrating obesity and adiposity for all age groups in boys and girls. It was concluded that the values >90th percentile (median 15.8 kg/m3) in girls aged ≤10 y, 95th percentile (median 16.2 kg/m3) in girls aged >10 y, >85th percentile (median 14.9 kg/m3) in boys aged ≤12 y and 75th percentile (median value 14.5 kg/m3) in boys aged >12 y are critical values for TMI when evaluating adiposity and obesity. CONCLUSIONS: We considered that TMI is as effective as BMI in terms of waist/height ratio, waist circumference, arm fat area, and body fat percentage in determining overweight and obesity in children. The ages at which TMI showed distinct variation were determined for both sexes.

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.

Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART. METHOD: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded. RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro). CONCLUSION: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.

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.

Effects of whole-grain barley and oat ß-glucans on postprandial glycemia and appetite: a randomized controlled crossover trial.

This study aimed to determine the postprandial effects of barley bread (BB) and oat bread (OB), grain sources of ß-glucans, on glycaemia and appetite by comparison with white bread (WB) and whole-wheat bread (WWB). This randomized controlled crossover trial included 20 healthy individuals (10 males and 10 females) who consumed WB, WWB, BB, and OB with a standard breakfast followed by an ad libitum lunch. Postprandial glucose and appetite responses were quantified as the incremental area under the curve (iAUC). Although the iAUC for glycaemic response was lower by 23.7%, 29.9%, and 27.9% after the consumption of BB, OB, and WWB compared with WB (p = 0.023), no differences were observed between BB, OB, and WWB (p > 0.05). BB had a lower iAUC for appetite sensation by 21.5%, 23.9%, and 55.7% compared with WB, WWB, and OB (p = 0.005). OB had no effect on appetite and was also less palatable than BB. Subsequent food intakes were similar after the consumption of all test breads (p > 0.05). The encouragement of healthier bread formulations that can beneficially modulate postprandial glycemia and appetite may contribute to the promotion of public health. This trial was registered at ClinicalTrials.gov as NCT04749498.

The effects of diet quality and dietary acid load on insulin resistance in overweight children and adolescents.

INTRODUCTION: This study aimed to investigate the association of diet quality (DQ) and dietary acid load (DAL) with insulin resistance (IR) in overweight children and adolescents. MATERIALS AND METHODS: The study was conducted on 135 overweight participants aged 6-17 years. DQ was assessed using the Healthy Eating Index 2015 (HEI-2015) and the HEI-2015-TUBER, revised in accordance with the Turkey Dietary Guidelines (TUBER). Estimation of DAL was made calculating the potential renal acid load (PRAL) and net endogenous acid production (NEAP) scores. RESULTS: The HEI-2015-TUBER score was lower in those with IR than in those without IR (p=0.021). Higher PRAL and NEAP scores were found in those with IR (p=0.060 and p=0.044, respectively). Moreover, a one-unit increase in the HEI-2015-TUBER score and the DAL score was associated with a reduction of 4.2% and a rise of approximately 3% in IR risk, respectively. CONCLUSIONS: Healthy eating habits in overweight paediatric groups may help to reduce the IR risk, improving DQ and decreasing DAL.

Vicious cycle between severity of childhood obesity and pandemic: Potential impact of metformin.

Introduction: COVID-19 is currently a global pandemic, and initial reports of identified COVID-19 lockdown and limitations can adversely affect childhood obesity and metabolic health. Studies conducted in recent years have shown that the rate of obesity in childhood increases with the changing lifestyle with the pandemic. However, there is insufficient data on how the situation changes and how metabolism is affected in those, who are already obese. The aim of this paper was to determine how the pandemic affects the current status, severity, and metabolic parameters of obese children. We also attempted to show potential effects of metformin therapy. Methods: The study was conducted with the participation of 101 patients with obesity (The mean age was 13.6 ± 2.2). The patients were evaluated using pre- and post-lockdown data with an interval of 6 months. The new classification system was used to determine the severity of obesity. All anthropometrics, metabolic parameters (Blood glucose, insulin, HbA1C, lipid profile), lifestyle, and comorbidities were evaluated by dividing the participants into various subgroups according to their obesity and metformin usage status. Results: Our data shows that weight, height, BMI, BMI-SD, and BMI percentiles all increased significantly, after the pandemic started. The severity of obesity increased statistically (overweight decreases and class 2 obesity increases, p = 0.001). No change was observed in metabolic parameters. Surprisingly, a significant increase was observed in insulin and HOMA-IR values in the group with-metformin. Discussion: Most studies about childhood obesity have only focused on obesity increases and pandemic relation. Our study showed that although there was no significant change in metabolic status at the end of a lockdown period, there was a serious increase in the severity of obesity. Metformin use had no effect on either obesity or metabolic parameters, and even an increase in insulin resistance indicators was observed.

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.

Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alström syndrome 1 (ALMS1) gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age. In this study, we aimed to examine the molecular diagnosis of a 6-year-old patient with suspected AS clinical symptoms. After applying clinical exome sequencing (CES) in the patient we found a homozygous deletion in exon 8 at the ALMS1 gene (c.2311_2312del). We identified a homozygous frameshift mutation. The reported variant was pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG). Thus, the patient was diagnosed with AS as a result of the combined clinical phenotype and genetic tests results. We hope the variant we found can expand the spectrum of ALMS1 variants in AS.

A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A.

OBJECTIVES: Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the TOR1A gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main characteristics defined in seven patients thus far. One third of the individuals with monoallelic mutations of the gene develop isolated early-onset dystonia (DYT1 dystonia), which is inherited in an autosomal dominant fashion, with variable expressivity and incomplete penetrance. We believe that different inheritance patterns of the same gene resulting in different phenotypes will provide an opportunity to understand other similar disease groups and different aspects of gene functions. CASE PRESENTATION: We present a case with severe arthrogryposis multiplex congenita, respiratory failure, and feeding difficulties, with additional hitherto unreported symptoms, such as spontaneous bone fracture, sliding esophageal hernia, and uterine prolapse. The patient carried a novel homozygous variant (c.835delA, p.Lys275Asnfs*3) in the TOR1A gene (NM_000113.2). CONCLUSIONS: We want to contribute to the phenotypic and genotypic spectra of this extremely rare disease.

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.

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

CONTEXT: Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal dysgenesis (GD). METHOD: We sequenced the PPP2R3C gene in four new patients from three unrelated families. The clinical, laboratory, and molecular characteristics were investigated. We have also determined the requirement for Ppp2r3c in mice (C57BL6/N) using CRISPR/Cas9 genome editing. RESULTS: A homozygous c.578T>C (p.L193S) PPP2R3C variant was identified in one 46,XX girl with primary gonadal insufficiency, two girls with 46,XY complete GD, and one undervirilised boy with 46,XY partial GD. The patients with complete GD had low gonadal and adrenal androgens, low anti-Müllerian hormone, and high follicle-stimulating hormone and luteinizing hormone concentrations. All patients manifested characteristic features of MEGD syndrome. Heterozygous Ppp2r3c knockout mice appeared overtly normal and fertile. Inspection of homozygous embryos at 14.5, 9.5, and 8.5 days post coitum(dpc) revealed evidence of dead embryos. We conclude that loss of function of Ppp2r3c is not compatible with viability in mice and results in embryonic death from 7.5 dpc or earlier. CONCLUSION: Our data indicate the essential roles for PPP2R3C in mouse and human development. Germline homozygous variants in human PPP2R3C are associated with distinctive syndromic GD of varying severity in both 46,XY and 46,XX individuals.

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.

The comparison of two mealtime insulin dosing algorithms for high and low glycaemic index meals in adolescents with type 1 diabetes.

AIMS: Postprandial glycaemic variability carries on being a clinical challenge in optimizing glucose control in type 1 diabetes. The aim of this study was to compare the postprandial glycaemic effects of carbohydrate counting and food insulin index algorithms following the consumption of protein-rich, high-fat meals with different glycaemic index (GI) in adolescents with type 1 diabetes. METHODS: A randomized, single-blind and crossover trial included 15 adolescents aged 14-18 years with type 1 diabetes. Participants consumed two different test meals with similar energy, macronutrients and food insulin index but the approximately twofold difference in GI, in random order on four consecutive mornings at their home. Insulin dose for high- and low-GI test meals was determined by using the carbohydrate counting and food insulin index algorithms. Four-hour postprandial glycaemia was assessed by the continuous glucose monitoring system. RESULTS: Compared with carbohydrate counting, the food insulin index algorithm significantly decreased peak glucose excursion (-57%, p = 0.02), incremental area under the curve (-65%, p = 0.02) and coefficient variation of blood glucose (-37%, p = 0.03) in the high-GI meal, though there was no difference between the two algorithms in the low-GI meal. The occurrence of hypoglycaemia did not significantly differ between insulin dosing algorithms for the high-GI (p = 0.58) and low-GI (p = 0.20) meals. CONCLUSIONS: The food insulin index algorithm may be beneficial for postprandial glycaemic control after the consumption of high-GI meals in adolescents with type 1 diabetes.

A comparison of emotional eating, social anxiety and parental attitude among adolescents with obesity and healthy: A case-control study.

This case-controlled study was conducted to determine and compare the emotional eating, social anxiety and parental attitude in those adolescents with obesity and healthy counterparts. The sample of the study consist of obese adolescents in 14-18 aged (n = 150) followed up in the pediatric endocrinology outpatient clinic of a tertiary hospital and healthy adolescents in 14-18 aged (n = 150) who were studying in high schools. The data were collected using a questionnaire form, Emotional Eating Scale Adapted to Use in Children and Adolescents (EES-C), Social Anxiety Scale for Children-Revised (SASC-R) and Parenting Style Scale (PSS). The SASC-R and EES-C mean scores of obese adolescents were 39.03 ± 13.09 (p ≤ 0.001) and 76.66 ± 16.30 (p ≤ 0.001), respectively. The mean scores of PSS-AI, PSS-SS and PSS-PA subscales in obese adolescents were 26.80 ± 4.42 (p ≤ 0.001), 28.14 ± 4.06 (p ≤ 0.001) and 22.32 ± 4.63 (p = 0.037), respectively. There was a low-level correlation between the EES-C and SASC-R mean scores of obese adolescents (p < 0.05). The mean scores of PSS-AI, PSS-SS and PSS-PA subscales of PSS with EES-C and SASC-R of obese adolescents were no correlated (p > 0.05). In this study, the mean scores of the emotional eating and social anxiety of obese adolescents were higher than healthy ones. There was a low level of positive correlation between emotional eating and social anxiety mean scores of obese adolescents.

Endocrine Disruptors and Polycystic Ovary Syndrome: Phthalates

Objective: We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS. Methods: A total of 124 adolescents were included. Serum MEHP and DEHP levels were determined by high-performance liquid chromatography. Insulin resistance was evaluated using homeostasis model assessment-insulin resistance, quantitative Insulin Sensitivity Check Index, fasting glucose/insulin ratio, Matsuda index, and total insulin levels during oral glucose tolerance test. Participants were further subdivided into lean and obese subgroups according to body mass index (BMI). Results: Sixty-three PCOS and 61 controls, (mean age 15.2±1.5; range: 13-19 years) were enrolled. Serum DEHP and MEHP concentrations were not significantly different between PCOS and control groups. The mean (95% confidence interval) values of DEHP and MEHP were 2.62 (2.50-2.75) µg/mL vs 2.71 (2.52-2.90) µg/mL and 0.23 (0.19-0.29) µg/mL vs 0.36 (0.18-0.54) µg/mL in PCOS and the control groups respectively, p>0.05. Correlation analysis, adjusted for BMI, showed that both phthalates significantly correlated with insulin resistance indices and serum triglycerides in adolescents with PCOS. Conclusion: Serum DEHP and MEHP concentrations were not different between adolescents with or without PCOS. However, these phthalates are associated with metabolic disturbances such as dyslipidemia and insulin resistance, independently of obesity, in girls with PCOS.