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1.  Different Aspects of Kidney Function in Well-Controlled Congenital Hypothyroidism 
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.
doi:10.4274/Jcrpe.811
PMCID: PMC3537285  PMID: 23261862
congenital hypothyroidism; kidney function; kidney size
2.  Changes in serum lipid profile of obese or overweight children and adolescents following a lifestyle modification course 
ARYA Atherosclerosis  2012;8(3):143-148 .
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
PMCID: PMC3557010  PMID: 23359278
Children Obesity; Education; Anthropometry; Lipid Profile; Lifestyle
3.  High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? 
Background:
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.
Results:
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.
Conclusion:
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.
doi:10.4103/2277-9175.100130
PMCID: PMC3544130  PMID: 23326768
Congenital hypothyroidism familial; dysgenesis; dyshormonogenesis; genetic
4.  Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran 
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.
doi:10.1155/2012/717283
PMCID: PMC3419406  PMID: 22919382
5.  A Case of Congenital Lipoid Adrenal Hyperplasia 
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.
PMCID: PMC3415193  PMID: 22891154
46XY; failure to thrive; lipoid congenital adrenal hyperplasia
6.  Hearing Impairment in Congenitally Hypothyroid Patients 
Iranian Journal of Pediatrics  2012;22(1):92-96.
Objective
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.
Methods
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.
Findings
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.
Conclusion
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.
PMCID: PMC3448222  PMID: 23056865
Hearing impairment; Auditory Brain Stem Response; ABR; Oto Acostic Emission; OAE
7.  Effect of education on anthropometric indices in obese parents and children after one year of follow-up 
ARYA Atherosclerosis  2012;8(1):21-26.
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
PMCID: PMC3448397  PMID: 23056096
Children Obesity; Parents; Life Style Intervention; Education; Anthropometric Indices
8.  The Role of Maternal Thyroid Stimulating Hormone Receptor Blocking Antibodies in the Etiology of Congenital Hypothyroidism in Isfahan, Iran 
Background:
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.
Methods:
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.
Results:
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).
Conclusion:
It seems that autoimmunity has an important role in the etiology of CH. Further studies are necessary to determine other autoantibodies in CH patients.
PMCID: PMC3278878  PMID: 22347610
Congenital hypothyroidism; etiology; thyroid stimulating hormone receptor blocking; autoimmunity

Results 1-8 (8)