Hypothyroidism in beta-thalassemia intermedia patients with and without hydroxyurea

Hydroxyurea [HU] has been successfully used in patients with beta-thalassemia intermedia [beta-TI]. We aimed to evaluate the effect of the long-term use of HU on thyroid function in patients with beta-TI. Seventy-five patients with beta-TI aged?11 years and taking HU were randomly selected during 2010 in southern Iran. Thirtyone patients with beta-TI without HU were considered as a control group. Serum levels of thyroid stimulating hormone [TSH] and T4 were measured. The mean age of the participants was 22.7 +/- 5.1 years [age range=12-41 years]. Serum ferritin level had no significant correlation with HU consumption [P>0.05]. Overall, we detected 10 [9.4%] patients with hypothyroidism. We found that the use of HU at a dose of 8-15 mg/kg/day has no significant association with thyroid function in beta-TI patients. However, due to the small sample size in our study, documentation of this finding needs further studies with higher numbers of patients

Effect of pubertal suppression on linear growth and body mass index; a two-year follow-up in girls with genetic short stature and rapidly progressive puberty

Gonadotropin-Releasing Hormone agonists [GnRHa] are used to improve the final adult height in short stature children. There are limited studies which address the potential side effect of these agents: excessive weight gain. We have followed girls with rapidly progressive puberty receiving GnRHa and results were focused on the effect of treatment on final height, weight and body mass index. Thirty girls between 8.5 and 12 years with short stature and predicted adult height of less than 155 cm were enrolled in the study. All had rapidly progressive puberty. Weight and height measurements were done at the beginning of treatment, 6 and 12 months after starting and 6 and 12 months after the cessation of treatment Bone age and stages of puberty were estimated at the beginning of treatment, after 12 months of starting and 12 months after the treatment was stopped. Predicted adult height [PAH] changes during treatment were not significant There was no significant difference between final height and weight according to the body mass index [BMI], PAH or bone age. We conclude that girls with genetic short stature and rapidly progressive puberty will not benefit receiving a one-year course of GnRHa and there is no significant difference between the final height and final weigh among children according to BMI

Effect of growth hormone treatment on height velocity of children with pycnodysotosis

Objective: Pycnodysostosis is a rare autosomal recessive osteochondrodysplasia resulting from osteoclast dysfunction. Growth hormone [GH] secretion impairment and low insulin growth factor 1 [IGF-I] concentrations have been reported in these patients. The present study aims to describe GH effect on linear growth of eight children with pycnodysostosis

Methods: This study was conducted on 8 children suffering from pycnodysostosis. After evaluating systemic diseases, adrenal insufficiency, and hypothyroidism, bone age, height standard deviation score [HtSDS], body mass index [BMI], and some demographical characteristics were measured. To measure the serum GH, we performed two clonidine tests in two different days with an interval of 24 hours. With initiation of the trial, human GH was injected subcutaneously once a day 6 days a week for a period of 1.5 years. The patients were followed up every 3 months to document their height and BMI until 6 months after the end of the treatment

Findings: All of the patients had growth hormone deficiency. HtSDS at the first visit continued to decrease during the 6 months before starting the treatment; however, HtSDS started to increase after beginning of GH administration. This value again declined after discontinuing the GH. Overall, the mean of linear growth was improved after GH administration in the patients

Conclusion: The present clinical study revealed that GH administration had a positive impact on the linear growth of the children suffering from pycnodysostosis

Investigation of the relationship between retinol binding protein 4, metabolic syndrome and insulin resistance in Iranian obese 5-17 year old children

Retinol-binding protein 4 [RBP4] has recently been reported to be associated with insulin resistance [IR] and the metabolic syndrome by a number of researchers in various populations. However, controversies are present among different studies, which might be due to the differences between various ethnic, age, and sex groups. This study aimed to determine whether RBP4 can be assumed as a marker of IR and the metabolic syndrome in the Iranian obese children. In the present longitudinal cross-sectional study, 100 5-17 years old obese children were recruited from January 1, 2011 to February 1, 2012. The patients' information including the demographic variables, health status and behavior, and daily physical activity were collected. Moreover, serum RBP4 was measured and correlated with the homeostasis model assessment of IR index [HOMA-IR], components of the metabolic syndrome, and lipoprotein metabolism. The results revealed a positively significant correlation between RBP4 and the HOMA-IR index [P=0.02]. Partial Spearman test also revealed a significant correlation between RBP4 plasma concentrations and the components of the metabolic syndrome, including waist circumference, systolic [but not diastolic] blood-pressure, and fasting blood sugar [P<0.05]. However, no significant correlation was observed between RBP4 and HDL [P=0.3] as well as triglycerides concentration [P=0.1]. Moreover, plasma RBP4 level gradually increased with the increasing number of the metabolic syndrome components. Regarding the results of the present study and previous investigations, RBP4 seems to be a suggestible predictive marker for both insulin resistance and metabolic syndrome in Iranian obese children; however, further studies are needed to be conducted among different ethnicities and age groups in order to determine the predictive value of this correlation

Changing the treatment of permanent neonatal diabetes mellitus from insulin to glibenclamide in a 4-month-old infant with KCNJ11 activating mutation

Permanent neonatal diabetes mellitus [PNDM] is a rare type of diabetes and KCNJ11 gene activating mutation is one of its prevalent causes. We introduced a 4-month-old male infant with poor feeding, restlessness, tachypnea, hyperglycemia, metabolic acidosis, and ketonemia. He was discharged with insulin and after 2 months, KCNJ11 gene mutation was found and treatment was switched from subcutaneous insulin to oral glibenclamide. Now, he is 1 year old with desirable glycemic control; therefore, genetic study is recommended for KCNJ11 gene mutation in such patients because if the mutation is found, treatment can be switched from insulin to sulfonylurea

Cardiovascular involvement in children with osteogenesis imperfecta

Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with Osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients. 24 children with Osteogenesis imperfecta and 24 normal children who were matched with the patients regarding sex and age were studied. In both groups, standard echocardiography was performed, and heart valves were investigated. Dimensions of left ventricle, aorta annulus, sinotubular junction, ascending and descending aorta were measured and compared between the two groups. The results revealed no significant difference between the two groups regarding age, sex, ejection fraction, shortening fraction, mean of aorta annulus, sinotubular junction, ascending and descending aorta, but after correction based on the body surface area, dimensions of aorta annulus, sinotubular junction, ascending and descending aorta in the patients were significantly higher than those in the control group [P<0.05]. Two [8.3%] patients had aortic insufficiency and five [20%] patients had tricuspid regurgitation, three of whom had gradient >25 mmHg and one patient had pulmonary insufficiency with indirect evidence of pulmonary hypertension. According to Z scores of aorta annulus, sinotubular junction and ascending aorta, 5, 3, and 1 out of 24 patients had Z scores >2 respectively. The prevalence of valvular heart diseases and aortic root dilation was higher in children with Osteogenesis imperfecta. In conclusion, cardiovascular investigation is recommended in these children

side effects of gonadotropin releasing hormone analog [Diphereline] in treatment of idiopathic central precocious puberty

Treatment of central precocious puberty [CPP] is the administration of GnRH analogs. Metabolic syndrome comprised metabolic disturbances that confer increased risk of [CVD] diabetes mellitus [DM] and cardiovascular disease. This study is a longitudinal prospective study in pediatric endocrinology clinic. 30 non-obese children with idiopathic CPP were involved. Total body weight, height, blood pressure, BMI and waist circumference of the patients along with their triglyceride [TG], total cholesterol [TC], low density lipoprotein [LDL], high density lipoprotein [HDL], fasting plasma sugar [FPS] were evaluated at the beginning and during 3 and 6 months GnRH analog therapy. All of the patients involved in this study were female with age 9.5 +/- 1.02 years. Waist circumference, weight and BMI were 69.3 cm, 37.21 kg, and 19.13 kg/cm[2] before therapy and 72.25 cm, 40.11 kg, and 19.54 kg/m[2] 6 months after therapy respectively. Mean systolic and diastolic blood pressure of the patients before therapy was 96.83 mmHg, 66mmHg and after 6 months therapy was 98.66 mmHg, 89.63 mmHg respectively. Mean TG, LDL, HDL and FPS were 90.06 mg/dl, 91.6 mg/dl, 43.7 mg/dl and 89.6 mg/dl before therapy and 96.4 mg/dl, 93.1 mg/dl, 44.7 mg/dl and 91.36 after 6 months therapy respectively. GnRH analog therapy doesn't cause metabolic syndrome after 3 and 6 month therapy but it may cause hyperlipidemia and central obesity

Evaluation of congenital hypothyroidism in Fars province, Iran

In Iran thyroid-stimulating hormone [TSH] based neonatal screening program is included in health care services from 2005 for detection of patients with primary congenital hypothyroidism [CH]. This study was performed for a critical evaluation of the screening program primary congenital hypothyroidism in Fars province, Iran. From November 2006 to September 2007, TSH serum concentrations of 63031 newborns, 3 to 5 days old born in Fars province, were measured by heel prick. The newborns with TSH >/= 5mIU/L were recalled for measurement of serumT4 and TSH in venous blood samples Of 127 recalled subjects, 43 were confirmed to be hypothyroid, showing a prevalence of 1:1465 with F:M ratio of 1.05:1. The most common clinical and radiological findings were prolonged jaundice [73%], large anterior fontanel [56%], wide posterior fontanel [55%], absence of distal femoral epiphysis [20%], and umbilical hernia [11%]. Scintigraphy of the thyroid with [99m]TC revealed eutopia [67.4%], hypoplasia [23.3%], agenesis [4.7%] and ectopia [2.3%]. It is concluded that a cut off value of TSH >/= 5mIU/L overestimates recalling the number of patients with CH. The most common cause of congenital hypothyroidism is not dysgenesis of the gland and perhaps dyshormonogenesis in Iran is more common than what is reported in other countries

Incidence of neonatal hyperphenylalaninemia in pars province, South Iran

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin [BH[4], deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Pars province, south of Iran. In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Pars province for measurement of serum phenylalanine. The samples with a serum level of >/= 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography [HPLC] method. Nine out of 76966 newborns had a serum phenylalanine level >/= 2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria [PKU] among the patients was 62.5% and 37.5% respectively and the incidence of BH4 deficiency was 1/76966. These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Pars province. The high incidence makes a comprehensive screening program "for management of the disease necessary

Persistence of goiter despite adequate iodine intake

To evaluate the state of iodine uptake and frequency of goiter in a previously endemic population after use of iodine salt for ten years. In an area in south of Iran following examination of randomly selected 1504, 8-10 year school children, 102 cases with grade 2 or larger goiter were found. One hundred normal cases regarding thyroid examination were also selected as controls. From all 202 children, random urine specimen was assayed for iodine as an indicator of iodide intake. Frequency of goiter grade 2 or larger was 6.8%. Median levels of urinary iodine in goiterous children and controls were 20.00 micro g/dL and 24.50 micro g/dL respectively. Values more than 10 micro g/dL indicate sufficient intake. Frequency of iodine deficiency in patients with goiter was 14.0% vs. 12.7% in control group. There was no statistically significant difference between the two groups [P value=0.748]. Iodized salt has been effective to provide acceptable iodide intake but other causes are supposed to be responsible as etiologic factors for persistence of endemic goiter

Bone mineral density in children with systemic lupus erythematosus and juvenile rheumatoid arthritis

Although there is increasing in bone metabolism in patients with rheumatic disorders, few data exist on bone mineral density [BMD] in children with rheumatic disorders or on the association of BMD with disease-related variables. We determined BMD in Iranian children with systemic lupus erythematosus [SLE] and juvenile rheumatoid arthritis [JRA] to evaluate the relationship between disease-related variables and BMD. Twenty patients [13 girls and 7 boys] with SLE [n=15] and JRA [n=5] with a mean age of 13.10 +/- 3.29 years [range, 6-17 years], attending a pediatric rheumatology clinic and 20 healthy controls [matched for age and sex with each patient] were enrolled in a cross-sectional study between 2001 and 2003. BMD [g/cm[2]] of the femoral neck [BMD-F] and lumbar vertebrae [BMD-L] were measured by dual energy X-ray absorptiometry [DEXA]. The correlation between BMD and cumulative dose of steroids, daily dose of steroid, disease duration, disease activity, height, weight, and age was investigated. BMD in the patients [BMD-F=0.72 +/- 0.15, BMD-L=0.70 +/- 0.19] was significantly lower than controls [BMD-F=0.95 +/- 0.17, BMD-L=0.98 +/- 0.20, P=<0.001]. The severity of descreased BMD was more prominent in lumbar vertebrae than the femoral neck [P=0.04]. None of the variables were consistently related to a decrease in BMD. BMD was significantly lower in patients compared with controls. It was more prominent in lumbar vertebrae [trabecular bone]. Although cumulative dose of steroids and diseaese appeared to have some influence on BMD, none were independently correlated with BMD