Considering the importance of improvement of endothelial function in patients with type 1 diabetes mellitus (DM) and to prevent its related micro- and macro-vascular complications; in this study, the effect of vitamin C administration on improving endothelial function of children with type 1 diabetes was investigated.
In this analytic-experimental study, children with type 1 DM aged 6-18 years and a group of healthy children enrolled. Vitamin C (250 mg/daily) administrated for the two studied groups for 1-month. Endothelial function evaluated by flow-mediated dilatation (FMD) and intima-media thickness (IMT) measurement using vascular Doppler ultrasonography, before and after trial.
In this study, 18 patients with type 1 diabetes (DM) and 19 normal children as the control group were studied. After vitamin C administration IMT reduced in all studied groups (P < 0.05). FMD increased in all studied groups, but it was significant only in the control group (P = 0.02 in the control group and P = 0.07 in patients with DM). Mean differences of IMT 2 – IMT 1, FMD 2 – FMD 1 and left ventricular (LV) mass 2 – LV mass 1 and blood pressure (BP) were not significantly different in two studied groups (P > 0.05). Mean differences of IMT 2 – IMT 1, FMD 2 – FMD 1, LV mass 2 – LV mass 1 and BP were not significantly different in patients with HbA1c ≤ 7 g/dl and those with HbA1c >7 g/dl and control group (P > 0.05).
The findings of the current study indicated that vitamin C may have a protective effect on endothelial dysfunction, but regarding its effectiveness among the high-risk population such as diabetic patients with and without appropriate glycemic control the study was not sufficiently powered due to its small sample size.
Endothelium; type 1 diabetes; vitamin C
Aim. The present study aims to explore the effects of vitamin E and omega-3 on endothelial function indicators among adolescents with metabolic syndrome. Method. In a randomized, double blind, and placebo-controlled trial, 90 young individuals, aged 10 to 18 years, with metabolic syndrome were randomly assigned to receive either vitamin E tablets (400 IU/day) or omega-3 tablets (2.4 gr/day) or placebo. For assessing endothelial functional state, the serum level of vascular endothelial growth factor (VEGF) was measured by ELISA test. Results. The use of omega-3 supplementation for eight weeks led to significant increase in serum HDL level compared with the group treated with vitamin E or placebo group. In this regard, no significant correlations were found between the change in VEGF and baseline levels of other markers including anthropometric indices and serum lipids. Omega-3 could significantly reduce VEGF with the presence of other baseline variables (Beta = −12.55; P = 0.012). Conclusion. The administration of omega-3 can effectively improve endothelial function in adolescents with metabolic syndrome by reducing the level of serum VEGF, as a major index for atherosclerosis progression and endothelial destabilization. Omega-3 can be proposed as a VEGF antagonist for improving endothelial function in metabolic syndrome. The clinical implications of our findings should be assessed in future studies.
Obesity is a growing problem in all countries which leads to various physical, psychological, and social problems. The present study aimed to assess depression in children and adolescents aged 10-18-year old compared with the control group.
Materials and Methods:
In a case-control study, from among the 10- to 18-year-old students of the five education districts of Isfahan, 100 people (50 girls and 50 boys) were selected as obese children with the Body Mass Index (BMI) of greater than 95th percentile for their age and gender and 100 others (50 girls and 50 boys) as the control group with the BMI of 5th to 85th percentile. The case and control groups were matched for age, gender, and socio-economic status. After calculating BMI based on weight (kg)/height2 (meter), subjects were interviewed based on DSM IV criteria to diagnose clinical depression. The severity of children's depression was measured using standardized questionnaire.
The mean age of the case group was 12.2 ± 1.86-years old and that of the control group 13.06 ± 2.25. They were, respectively, diagnosed with depression of 7% and 6%. The mean depression score of the case group was 11.7 ± 5.3 and that of the control group was 10.6 ± 6.03 with no statistical significance.
Given our findings, the Jolly fat hypothesis applies to the case group. It seems that health policy-makers need to make intervention plans to change behavior; attitude, skill, and knowledge (BASK) of the public toward obesity and its long-term side-effects.
Adolescent; depression; obesity
Objective: In the present study, we evaluated the association of rs662799 variant of the APOA5 gene with Metabolic syndrome (MetS) in a sample of children and adolescents from Isfahan.
Methods: This case control study comprised 50 cases of MetS and 50 controls. Mismatched polymerase chain reaction–restriction fragment length polymorphism (mPCR-RFLP) was used to genotype -1131T>C polymorphism.
: No significant association was documented for APOA5 genotypes with the measured laboratory parameters for CC, CT, and TT genotypes in the two groups studied. By logistic regression using a dominant model, the odds ratio (95% confidence interval0 for the MetS was 0.38 (0.139–1.0350 and 0.29 (0.08–1.071 for the unadjusted and adjusted models, respectively.
Conclusion: This study suggests that among studied children and adolescents, -1131T>C polymorphism in the APOA5 gene may not be a major contributor to the MetS risk.
Apolipoprotein A5 Gene; Metabolic Syndrome; Children; Adolescents; Triglyceride; Cholesterol
Some studies have shown the possible role of protein-energy malnutrition (PEM) in persistence of endemic goiter in iodine replenished areas. The present study was conducted to assess the association between PEM and goiter in schoolchildren of Isfahan, Iran.
In a cross-sectional study using multistage cluster random-sampling, 2331 schoolchildren with age ranged from 6-13 years old with a female to male ratio of 1.60 were enrolled. Thyroid size was examined by two endocrinologists for goiter detection. Children were considered goitrous if they had palpable or visible goiters according to World Health Organization (WHO)/United Nations children's Fund/International Council for the Control of Iodine Deficiency criteria. Weight and standing height were measured using the standard tools and anthropometric indices were calculated using the WHO AnthroPlus software developed by the World Health Organization. Height-for-age Z-scores (HAZ), weight-for-age Z-scores (WAZ) and body mass index (BMI) for age were calculated for each child. Children with a HAZ, WAZ or BMI-for-age of Z-score < –2.0 were classified as stunted, underweight or thin, respectively. Blood samples were drowned to measure serum thyroid hormones.
Overall, 32.9% of subjects were classified as goitrous. Weight, height, BMI, WAZ and BMI-for-age Z-score were significantly lower in children with goiter than in children who did not have goiter (P < 0.05). The prevalence of goiter in thin children was higher than that in non-thin ones (48.4 vs. 31.6%, odds ratio [OR]: 2.02, 95% confidence interval [CI]: 1.52-2.69, P < 0.001). Although 33.4% of non-stunted children were goitrous, 31% of stunted ones had goiter (P = 0.5). According to the logistic regression model taking sex and age as covariates, the only significant parameter affecting palpable goiter detection was thinness (OR = 2.13, 95% CI: 1.22-3.69, P < 0.001).
In the present study, we found a high prevalence of goiter in children who were malnourished. It seems that PEM may play a role in the still high prevalence of goiter in this region.
Body mass index-for-age Z-score; goiter; height-for-age Z-score; Iran; protein-energy malnutrition; weight-for-age Z-score
Several evidences have been reported so far in terms of the relationship between obesity and glycemic index and glycemic load in children. However, the number of review studies that have dealt with recent findings is quite low. The purpose of present study is to review the existing evidences in this regard.
Materials and Methods:
First of all, the phrases: “Glycaemic index”, “Glycaemic load”, “Glycemic index” OR “Glycemic load” accompanied by one of the words: “Adolescent”, “Young”, “Youth” “Children” OR “Child” were searched in texts of articles existing in ISI and PUBMED databases which were obtained out of 1001 articles. Among these, some articles, which reviewed the relationship of obesity with glycemic index and glycemic load, were selected. Finally, 20 articles were studied in current review study.
The majority of cross-sectional studies have found children's obesity directly linked with glycemic index and glycemic load; however, cohort studies found controversial results. Also, the intervention studies indicate the negative effect of glycemic index and glycemic load on obesity in children.
Published evidences reported inconsistent results. It seems that existing studies are not sufficient and more studies are needed in this regard.
Children; glycemic index; glycemic load; obesity
the aim of this study was to determine the relation between serum and filter paper thyroid-stimulating hormone (TSH) levels in neonates with congenital hypothyroidism (CH). We also tried to determine an appropriate cutoff point of filter TSH for recalling screened neonates.
Materials and Methods:
in this descriptive-analytic study, records of 2283 neonates who had been recalled during CH screening program in Isfahan (Iran) were studied. The relation between serum and filter paper TSH levels in the studied neonates was assessed and the best cutoff point of filter TSH and its sensitivity and specificity for proper diagnosis of CH were determined.
among the studied neonates, 103 (4.5%) were diagnosed with CH. Using receiver operating characteristic (ROC) curve, the best cutoff point for diagnosing CH was 7.5 with a sensitivity of 74.8% and specificity of 71.3%. The rates of false positive and false negative diagnoses at this cutoff point were28.7% and 25.2%, respectively. There was a significant relationship between serum and filter paper TSH levels.
the cutoff point for recall should be changed to 7.5 for appropriate screening outcome. On the other hand, considering the low cost of filter paper and importance of missing any case of CH, changing the cutoff point is not necessary. However, further studies in different parts of Iran are required to obtain more accurate results and consider all related factors.
Congenital hypothyroidism; filter paper; thyroid-stimulating hormone
Local reference data are needed in the screening of children for thyroid enlargement. We determined the thyroid gland volume using the ultrasonography (US) in schoolchildren of Isfahan, Iran.
Materials and Methods:
A total of 360 schoolchildren (59% girls) aged 8-15 years who met the study criteria were entered the study. Clinical grading of goiter was performed by an endocrinologist according to the World Health Organization (WHO) classification. Then, a single expert radiologist performed thyroid volume measurement using a portable ultrasound device. Urinary iodine (UI) concentration was checked in 36 randomly selected cases.
On physical examination, 327 (91%), 32 (8.8%) and 1 (0.2%) subjects were classified as normal, borderline and goiter Grade 2. Mean thyroid volume measured by US was 1.46 ± 0.70 ml. Thyroid volume in boys was significantly higher than girls (1.58 ± 0.67 ml vs. 1.38 ± 0.71 ml; P = 0.009). Thyroid volume was positively correlated with the clinical grade of the goiter (r = 0.30, P < 0.001) and with age (r = 0.25, P < 0.001). Both median and 95th percentile of thyroid volume of our subjects was lower than the reference values reported by WHO. Median of UI was 16.90 μg/dl. UI was not correlated with thyroid volume (r = 0.12, P = 0.46).
The thyroid size in Isfahanian schoolchildren is lower than the reference values reported by WHO. These data could be used in determining local reference in the screening of children for thyroid enlargement.
Goiter; Isfahan; thyroid; thyroid volume; ultrasound
Considering the higher prevalence of congenital hypothyroidism (CH) in Iran and the importance of determination of the etiology of CH for assessing appropriate treatment strategies, understanding the pathogenesis of CH and the implications of its inheritance and prognosis, the aim of this study was to determine the etiology of CH 7 years after initiation of the program in Isfahan province.
Materials and Methods:
In this cross-sectional study, children with a primary diagnosis of CH studied. They clinically examined and their medical files were reviewed by a Pediatric Endocrinologist. Considering screening and follow-up lab data and radiologic findings the etiology of CH was determined. Screening properties of different etiologies of CH was compared.
In this study, 437 patients with permanent CH (PCH) were studied. Etiology of PCH in 316 (72.3%) and 121 (27.7%) of cases was thyroid dyshormonogenesis and thyroid dysgenesis, respectively. Prevalence of agenesis, ectopia, hypoplasia and hemiagenesis in thyroid dysgenetic patients was 13.3%, 6.4%, 4.3% and 3.7% respectively. Mean of thyroid stimulating hormone in screening, recall and after discontinuing treatment at 3 years of age was significantly lower in dyshormonogenetic CH patients than dysgenetic ones(P < 0.01).
Seven years of our experiences in CH screening program indicated that the etiology of CH in Isfahan, with a higher rate of CH, with a predominance of thyroid dyshormonogenesis is different from most of the studies world-wide and similar to other reports from Iran. The findings of the current study provide us baseline information for determination of CH pathogenesis in this region.
Congenital hypothyroidism; dysgenesis; dyshormonogenesis; permanent
Considering the importance to determine the reasons for the higher occurrence of congenital hypothyroidism (CH) in Iran, in this study we report the prevalence of permanent CH (PCH) in Isfahan province 7 years after initiation of CH screening program in Isfahan.
In this cross-sectional study, children with a primary diagnosis of CH studied. They clinically examined and their medical files were reviewed by a pediatric endocrinologist. Considering screening and follow-up lab data, radiologic findings and the decision of pediatric endocrinologists the final diagnosis of PCH was determined.
A total of 464,648 neonates screened in Isfahan province. The coverage percent of the CH screening and recall rate was 98.9% and 2.1%, respectively. A total of 1990 neonates were diagnosed with primary CH. PCH was diagnosed in 410 neonates. The prevalence of PCH and transient CH (TCH) was 1 in 1133 and 1 in 294 live births. The most common etiology of CH was thyroid dyshormonogenesis.
Though the prevalence of PCH is high, but the higher prevalence of CH in Isfahan is commonly due to cases with TCH. Hence, the necessity of determining new strategies for earlier diagnosis of patients with TCH is recommended.
Congenital hypothyroidism; permanent; transient
Although several studies have assessed the influence of the glycemic index on body weight and blood pressure among adults, limited evidence exists for the pediatric age population. In the current study, we compared the effects of low glycemic index (LGI) diet to the healthy nutritional recommendation (HNR)-based diet on obesity and blood pressure among adolescent girls in pubertal ages. This 10-week parallel randomized clinical trial comprised of 50 overweight or obese and sexually mature girls less than 18 years of age years, who were randomly assigned to LGI or HNR-based diet. Macronutrient distribution was equivalently prescribed in both groups. Blood pressure, weight and waist circumference were measured at baseline and after intervention. Of the 50 participants, 41 subjects (include 82%) completed the study. The GI of the diet in the LGI group was 42.67 ± 0.067. A within-group analysis illustrated that in comparison to the baseline values, the body weight and body mass index (not waist circumference and blood pressure) decreased significantly after the intervention in both groups (P = 0.0001). The percent changes of the body weight status, waist circumference and blood pressure were compared between the two groups and the findings did not show any difference between the LGI diet consumers and those in the HNR group. In comparison to the HNR, LGI diet could not change the weight and blood pressure following a 10-week intervention. Further longitudinal studies with a long-term follow up should be conducted in this regard.
Glycemic index; obesity; blood pressure; adolescent; obese
Congenital hypothyroidism (CH) considered a common endocrine disorder in Iran. We report the epidemiologic findings of CH screening program in Isfahan, seven years after its development, regarding the prevalence of transient CH (TCH) and its screening properties comparing with permanent CH (PCH).
Materials and Methods:
In this cross-sectional study, children with primary diagnosis of CH were studied. Considering screening and follow-up lab data and the decision of pediatric endocrinologists, the final diagnosis of TCH was determined.
A total of 464,648 neonates were screened. The coverage percent of the CH screening and recall rate was 98.9 and 2.1%, respectively. Out of which, 1,990 neonates were diagnosed with primary CH. TCH was diagnosed in 1,580 neonates. The prevalence of TCH was 1 in 294 live births. 79.4% of patients with primary CH had TCH. Mean of screening (54.7 ± 59.0 in PCH vs 21.8 ± 28.9 in TCH), recall (56.5 ± 58.8 in PCH vs 36.6 ± 45.0 in TCH), and thyroid stimulating hormone (TSH) and mean of TSH before (2.0 ± 2.9 in PCH vs 1.6 ± 1.6 in TCH) and after (37.7 ± 29.5 in PCH vs 4.3 ± 1.9 in TCH) discontinuing treatment at 3 years of age was significantly higher in PCH than TCH (P < 0.0000).
The higher rate of CH in Isfahan is mainly due to the transient form of the disease. Further studies for evaluating the role of other environmental, autoimmune and/or genetic factors in the pathophysiology of the disease is warranted.
Congenital hypothyroidism; permanent; transient
The aim of the present study was to determine the effect of various perinatal factors on cord blood TSH among newborns in Isfahan, Iran.
Materials and Methods:
This was a descriptive–analytic cross sectional study which performed in Isfahan Iran. During a period of four months, since February to May 2012 a total number of 440 newborns delivered in Alzahra and Shahid beheshti hospitals were enrolled in the study. For all newborns one mL blood sample from umbilical vein was obtained by one of the project investigators and sent to laboratory for further examinations. Cord blood TSH and birth body weight (BBW), gestational age, history of gestational diabetes mellitus (GDM), apgar at one minute, apgar at five minute, newborn gender and the mother's age were documented. Differences considered statistically significant if P < 0.01.
440 newborns enrolled in the study, 221 (50.2%) were male and 219 (49.8%) were female. Among study parameters, method of delivery had statistically significant relation with cord blood TSH (P < 0.001), and other factors such as BBW, gestational age, GDM, apgar at one minute, apgar at five minute, newborn gender and the mother's age didn’t have statistically significant relationship with cord TSH level.
In conclusion we deduce that the only factor that can affect cord blood TSH was method of delivery. Infant with vaginal delivery has higher TSH level in cord blood. Other factors that were evaluated in this study didn’t have any statistically significant relationship.
Cord blood; perinatal factors; thyroid stimulating hormone
Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan, the intelligence quotient (IQ) of children with CH and the effect of diagnostic and treatment variables on it were investigated during the CH screening program.
Materials and Methods:
A total of 120 children in three studied groups were studied in this comparative study the IQ score, in three subsets of verbal IQ, performance IQ and full scale IQ, of children diagnosed with transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) was measured using revised Wechsler pre-school and primary scale of intelligence and compared with the control group. The relation between IQ score with time of treatment initiation and screening thyroid stimulating hormone (TSH) level was evaluated in all studied groups.
Mean of verbal IQ, performance IQ, and full scale IQ score was significantly higher in the control group than CH patients (both permanent and transient) In PCH patients though it was not significant, there was a negative relationship between verbal IQ, performance IQ and full scale IQ and screening TSH and age of treatment initiation. In TCH patients, there was negative and significant relationship between verbal IQ (r = −0.40) and full scale IQ (r = −0.38) and age of treatment initiation (r = −0.46).
Mean IQ score in both PCH and TCH patients were lower than the control group, which correlates negatively with treatment initiation time. Though CH screening and early treatment has improved the prognosis of patients, but early and high dose of treatment in children with CH is recommended.
Congenital hypothyroidism; intelligence quotient; permanent; transient; Wechsler pre-school and primary scale
Objectives. The aim of the current study was to investigate the growth status of CH, generate specialized growth charts of CH infants, and compare them with their counterparts of regional normal infants. Methods. In this prospective cohort study, 760 (345 girls and 415 boys) neonates born in 2002–2009 diagnosed by neonatal CH screening program in Isfahan were followed up from the time of diagnosis. 552 healthy children were recruited as a control group. The empirical 3rd, 15th, 50th, 85th, and 97th percentiles for height, weight, and head circumference of both sexes were determined and compared with their counterpart values of the control group. The relative frequency of patients with impaired growth for each studied variable was determined. Also, specialized growth charts of CH patients were generated. Results. The percentiles of weight, height, and head circumference of studied patients are significantly different from regional healthy children (P < 0.001). The relative frequency of impaired head circumference was decreased to less than 3% at the 3rd year of age and for height it reached gradually 3% and 9% at the 5th year of age for boys and girls, respectively (P < 0.05); however for weight still it was statistically more than 3% in both sexes. Conclusion. CH patients had impaired growth development which was improved during follow up, but the catch-up time was earlier for head circumference and later for weight.
Diabetes mellitus (DM) is a common metabolic disorder that can cause various complications including, peripheral neuropathy (PNP). Some possible risk-factors such as blood glucose level, hyperglycemia, duration of diabetes, and lipid profiles are assumed to be important in diabetic PNP incidence. The aim of this study is to evaluate the prevalence and possible risk-factors of PNP in children with insulin dependent DM.
Materials and Methods:
Among diabetic children, 146 patients (up to 18-years old) were evaluated in this cross-sectional study. All patients were examined for signs and symptoms of neuropathy and nerve conduction studies were performed. Blood level of glucose and lipid profiles were also tested. The relation between variables was compared by independent t-test and logistic regression test.
The mean age of diabetic children was 11.9 ± 3.3 years whereas mean diabetes duration was 3.8 ± 2.9 years. PNP was detected in 40 patients (27.4%) that 62.5% of them have subclinical and 37.5% have clinical neuropathy. According to logistic regression analysis, duration of diabetes was the most important factor in prevalence of PNP (5.7 ± 3.5 and 3.1 ± 2.5 years in patients with and without neuropathy respectively, P < 0.001, 95% confidence interval [1.15-1.54]).
As most of the patients had subclinical PN, neurological assessment is recommended to detect subclinical neuropathy in asymptomatic type 1 diabetic children and it seems that the best way to prevent this complication is still rigid blood glucose control and periodic evaluations.
Diabetes mellitus; peripheral neuropathy; prevalence; risk factors; type 1
Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies in comparison with other countries, the high rate of parental consanguinity, and the role of NIS gene in permanent CH due to dyshormonogenesis, the aim of this study was to investigate the G395R mutation of the NIS gene in patients with permanent CH due to dyshormonogenesis
In this case–control study, patients diagnosed with permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood sample was obtained to determine the G395R mutations of NIS gene using polymerase chain reaction (PCR) sequencing method.
In this study, 35 CH patients with permanent CH due to dyshormonogenesis and 35 neonates with normal screening results as a control group were studied. We did not find any changes of the mentioned mutation of NIS gene in the patients’ group.
Considering the findings of the current study, it seems that further studies with larger sample size and with consideration of other gene mutations such as pendrin and thyroglobulin are needed for more accurate conclusion.
Congenital hypothyroidism; dyshormonogenesis; G395R; mutation; sodium/iodide symporter (NIS) gene
Objective: Congenital hypothyroidism (CH) increases the prevalence of kidney and urogenital malformations. There are limited studies considering different aspects of kidney function in well-controlled CH patients. We evaluated some features of kidney function in euthyroid children with CH who have been receiving thyroxine hormone since early life.
Methods: This cross-sectional study was conducted in Isfahan, Iran, on 74 children aged 2-15 years old (36 CH patients and 38 healthy children). Inclusion criteria for CH patients were euthyroidism at the time of the survey and initiation of replacement therapy during the early neonatal period. Kidney ultrasound evaluation was performed in all participants. Serum biochemistry included urea, creatinine, sodium (Na), potassium (K), magnesium, calcium, and cystatin C levels. Urine electrolytes, fraction excretion (FE) of electrolytes and microalbumin, and glomerular filtration rate (GFR) were also determined.
Results: The male/female ratio was 0.8/1 and 1.5/1 in the patient and control groups, respectively. Mean age and height did not differ significantly between the two groups. Ultrasound evaluation of the kidney revealed that the anteroposterior diameter of the right kidney was significantly higher in CH patients as compared to healthy subjects. No significant difference was observed between GFRs in patients with CH and healthy children. The mean values for FENa and FEK were significantly higher in the patient group.
Conclusions: Increased FENa and FEK may be a manifestation of impaired tubular maturation in CH. More longitudinal studies are needed to evaluate kidney function in CH patients.
Conflict of interest:None declared.
congenital hypothyroidism; kidney function; kidney size
Considering rapid global increase in children obesity and high prevalence of dyslipidemia in obese and overweight children, this study aimed to evaluate the effect of an educational course on changes of lipid profile in children.
This non-pharmacological clinical trial study was performed on 4-18 year-old children attending outpatient clinics of Isfahan Endocrine and Metabolism Research Center (Iran). Anthropometric measurements were conducted for all children. Fasting blood samples were taken from right hand of the participants at the first laboratory visit. Biochemical tests including measurement of total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) were also carried out. Children took part in one educational session in which they were taught about ways and benefits of having regular physical activity once a day and having healthy foods. All children were followed up for about four months and anthropometrics and biochemical tests were repeated. Data was analyzed using SPSS16.
A total number of 412 children (245 girls and 167 boys) were divided into four age groups of under 6, 6-9, 10-13, and 14-18 years old. Baseline anthropometric measures were significantly higher in boys. However, there was no difference between boys and girls in baseline lipid profile. Children's body mass index (BMI) z-score increased in all age groups except for 14-18 year-old boys. In boys older than 10 years, there were significant reductions in LDL-C and TC. In girls over 10 years of age, there was a significant increase in HDL-C. Although anthropometric measurements did not change in children (except for 14-18 year-old-boys), there was a significant reduction in children's lipid profile after the study.
Our study showed that although one session of interventional education had no significant effects on children's anthropometric measurements, it could change their lipid profile. Moreover, the intervention was more effective on improving lipid profile in children over 10 years of age. Therefore, effective interventional strategies must be invented and implemented on children based on their age group.
Children Obesity; Education; Anthropometry; Lipid Profile; Lifestyle
Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the pathogenesis of CH and many studies in this regard confirm this possibility.
Materials and Methods:
In this review, we report all studies that established during CH screening program regarding familial and genetic component of the disease.
Although we could not entirely ignore the possible role of environmental and autoimmune factors in the development and function of thyroid gland, our findings strongly suggest the role of genetic factors as dominant etiologic factor in CH.
The studies support the existence of a familial component of CH involving dominant genetic predisposition factors with a low penetrance. Considering the polygenic/multifactorial basis of CH, they suggest the possible involvement of other unknown genes in the pathogenesis of the disease, which may also follow non-Mendelian pattern of inheritance.
Congenital hypothyroidism familial; dysgenesis; dyshormonogenesis; genetic
Background. Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis in patients with congenital hypothyroidism (CH). In this study, the prevalence of TPO gene mutations in patients with thyroid dyshormonogenesis in Isfahan was investigated. Methods. In this cross-sectional study, genomic DNA of 41 patients with permanent CH due to thyroid dyshormonogenesis was extracted using the salting out method. The 17 exonic regions of the TPO gene were amplified. SSCP technique was performed for scanning of the exonic regions of the TPO gene, except exon 8. DNA sequencing was performed for those with different migration patterns in SSCP by chain termination method. Exon 8 was sequenced directly in all patients. In 4 patients, all fragments were also sequenced. Results. One missense mutation c.2669G > A (NM_000547.5) at exon 15 (14th coding exon) in one patient in homozygous form and seven different single nucleotide polymorphisms (SNPs) in exons 1, 7, 8, 11, and 15 of TPO gene. Conclusion. The TPO gene mutations among CH patients with dyshormonogenesis in Isfahan were less frequent in comparison with other similar studies. It may be due to the presence of other unknown gene mutations which could not be detected by SSCP and sequencing methods.
Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles) was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.
46XY; failure to thrive; lipoid congenital adrenal hyperplasia
Thyroid hormone is necessary for normal development of the auditory system. The aim of this study was to investigate the rate of hearing impairment in congenitally hypothyroid (CH) patients, and its relation with factors such as CH severity and age at starting treatment, during CH screening program in Isfahan.
Hearing acuity was assessed in two groups of children with (94 patients aged 4 months – 3 years) and without CH (450), between 2000-2006. Otoacostic emission (OAE) was performed by a two step method. After two tests without OAE signals bilaterally, they were referred for auditory brainstem response (ABR) test. Subjects with both OAE and ABR abnormal test results were considered to have hearing problem. Obtained data was compared in case and control group and also CH patients with and without hearing impairment.
Three (3.2%) of patients and 1 of control group (0.2%) were diagnosed with sensorineural hearing loss. The rate of hearing loss was not different significantly in two studied groups (P>0.05). There was no difference between age of starting treatment and first T4 and TSH level in CH patients with and without hearing loss (P>0.05). CH neonates with hearing impairment had thyroid dyshormonogenesis according to the follow up results.
The rate of hearing loss was low among our studied CH patients. It may be due to proper management of CH patients. In view of the fact that all CH neonates were dyshormonogentic and considering the relation between certain gene mutations and hearing impairment in CH patients, further studies with larger sample size, with regard to different etiologies of CH should be investigated to indicate the possible gene mutations related to hearing loss in CH.
Hearing impairment; Auditory Brain Stem Response; ABR; Oto Acostic Emission; OAE
Childhood obesity has reached epidemic levels. Children obesity predisposes them to risk of cardiac disease in adulthood. Environmental factors, lifestyle preferences, and cultural environment play pivotal roles in the rising prevalence of obesity worldwide. Furthermore, family life style has a great influence on children obesity. This study aimed to determine the effect of family-oriented weight reduction program on the children’s anthropometric measurements.
This was a non-pharmacological clinical trial study which was performed on 4-18 years old children attending outpatient clinics of Isfahan Endocrine and Metabolism. Anthropometric measurements were recorded for all the participants. Children took part in one educational session in which they were taught about ways and benefits of having a regular physical activity each day and also benefits of having healthy nutrition. All the participants took part in every 4 months one-hour educational sessions and their anthropometrics were measured.
Fifty eight single-mother families participated in this study. Fourteen single-father families started the intervention but did not follow it to the end. Children’s body mass index (BMI) z-score decreased significantly after the study. Children waist circumference (WC) and hip circumference (HC) significantly increased. Mothers WC and waist to hip ratio (WHR) increased significantly. Regression test showed that mother BMI was an independent factor (B = 0.307; P < 0.021). The effect of the pattern of children’s BMI changed across a one-year period.
Our study showed significant effect of repetitive family life style education on children’s BMI z-score changes. Family, as the first place for children behavior formation, must be regarded as one of the best place to tackle childhood obesity.
Children Obesity; Parents; Life Style Intervention; Education; Anthropometric Indices
Considering the role of maternal thyroid stimulating hormone (TSH) receptor blocking antibody (TRAb) in the etiology of congenital hypothyroidism (CH), this study aimed to determine TRAb among patients with CH in Isfahan, Iran.
In this case–control study, patients with CH and their mothers were compared with a group of healthy neonates and their mothers. Venous blood samples were obtained for measurement of TRAb using enzyme-linked immunosorbent assay (ELISA) method among mothers and their neonates. TSH of mothers was also determined.
The case group consisted of 65 patients with CH and their mothers; controls were 148 healthy neonates and their mothers. The prevalence of positive TRAb in patients with CH and their mothers was higher than in the control group (81.5% vs. 1.3% in mothers and 80% vs. 0% in neonates, respectively, P<0.05). The relationship between the TRAb and occurrence of CH was significant (P<0.05), whereas the corresponding figure was not significant for TRAb and the level of maternal and neonatal TSH in case and control groups (P>0.05).
It seems that autoimmunity has an important role in the etiology of CH. Further studies are necessary to determine other autoantibodies in CH patients.
Congenital hypothyroidism; etiology; thyroid stimulating hormone receptor blocking; autoimmunity