Cartilage hair hypoplasia: First report from Iran

Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, ...) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as cartilage hair hypoplasia, with severe short stature, metaphyseal chondrodysplasia, hair hypoplasia, Hirschsprung disease, hypothyroidism, vesicouretral reflux and renal stone. Renal stone and hypothyroidism have been reported in cartilage hair hypoplasia with lower frequencies. This is the first report of cartilage hair hypoplasia in Iran

Gonadotropin-releasing hormone agonist therapy and obesity in girls

Background: Depot preparations of gonadotropin-releasing hormone agonists (GnRHa) are the gold standard drugs for the treatment of central precocious puberty. A concern about these drugs is obesity. Objectives: This study aimed to investigate the effect of gonadotropin-releasing hormone agonists (GnRHa) therapy on body mass index (BMI) in girls with central precocious puberty (CPP). Patients and Methods: The girls with onset of puberty before eight years of age or menarche before nine years of age were studied. The weight, height, BMI, and pubertal stage were determined before and at sixth and 12th months of treatment. The GnRHa (Triptorelin) was administered intramuscularly for patients with rapidly progressive forms of CPP. Patients with slowly progressive forms of CPP were considered as control group. Results: From 110 subjects with CPP, 46 girls (41.8) were considered as intervention and 64 (58.2) as control groups. The mean age at initial visit was 7.46 ± 1.03 years. The BMI standard deviation scores in both groups was not significantly different at sixth and 12th months of treatment compared with baseline (P = 0.257 and P = 0.839, respectively). The prevalence of obesity was not significantly different between study groups at baseline and at and sixth and 12th months of therapy (P = 0.11, P = 0.068, and P = 0.052, respectively). Conclusions: The GnRHa therapy has no effect on BMI and the prevalence of obesity. © 2015, Research Institute For Endocrine Sciences and Iran Endocrine Society

First report of 3-Oxothiolase deficiency in Iran

Introduction: Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency is a rare metabolic disorder involving ketone body metabolism characterized by acute attacks of vomiting, acidosis, ketosis, and lethargy along with some laboratory criteria including excessive excretion of 2-methyl-3-hydroxybutyric acid in urine. Case Presentation: This is a case report of 3-oxothiolase deficiency in a young Iranian boy with presentation of intractable vomiting and severe metabolic acidosis following a common cold in six months of age with abundant urinary 2-methyl-3-hydroxybutyric acid. Discussion: This is the first Iranian 3-oxothiolase deficiency case report as searched in the literature. Because of the high rate of consanguineous marriages in Iran, physicians should consider the 3-oxothiolase deficiency in the differential diagnosis of any patient with intractable vomiting and severe metabolic acidosis. © 2014

Frequency of catch up growth in small for gestational age infants born in Kashan during 2009-2010

Background: Small for gestational age (SGA) infants are at risk for low final height or weight. This study aimed to determine the frequency of catch-up growth in SGA infants. Materials and Methods: This cross-sectional study was carried out to study the infant’s growth process born in Kashan during 2009-2010. The infants with birth weight or height below 3 percentile were considered as SGA. A comprehensive history from mother’s diseases during pregnancy, birth grade, and parent’s education were provided. The children who achieved their height or weight for length above the 3th percentile (age<2 year) or BMI above the 5thpercentile (age≥2 year) were considered as those who caught up growth. Results: One-hundred fifty one children were included in the study (mean birth weight =1931 gram, birth height=43.63 cm and gestational age=36.28 week). Eighty-five children (56.3) were female. At the time of study, 116 (76.8) children were above the 3rd percentile for height; 124 (82.1) children were above the 3th percentile of weight for length or above the 5thpercentile for BMI; 20 (13.2) children were below the third percentile for height and weight. The mean corrected age at the time of catch-up was 1.08 and 1.41 year for weight and height, respectively. Catch-up growth was associated with higher weight, height and head circumference at birth. Conclusions: The failure to weight or height catch-up growth in children born with SGA is common. Therefore, the early recognition and referral of such children is a necessity

Comparing the predicted final and target height in girls with pubertal onset between 7 and 9.5 years of age

Background: One of the main concerns about the early puberty is short final height. In cases comparing the predicted final and target height can help predicting this problem. In this study we compared the target and predicted adult height in girls with early puberty. Material and Methods: A cross-sectional study was carried out on girls )n=200( with early Puberty. The diagnosis of early puberty in girls was made based upon the onset of secondary sexual characteristics between 7-9.5 years of age. The weight, height, BMI and pubertal stage were determined. Marshall-Tanner method was used for sexual maturation staging. Greulich-Pyle and Bayley-Pinneau methods were also used for bone age determination and prediction of adult height, respectively. Target height was calculated using the Mean of their parental heights minus 6.5. Results: Among the qualified participants (n=200, mean age 8.44±0.72 years) 90 cases (45.5) reffered with thelarche, 17 (8.5) with pubarche and 92 (46) with both thelarche and pubarche. The Mean predicted adult height and target height was156±6.69 and 156±4.3 cm, respectively. The 26 (13) of cases had a predicted adult height lower than 150 cm and 15 (7.5) that of lower than target zone. Conclusions: Although the majority of girls with early puberty have a predicted final adult height proportional to their target height, but some of these girls are at risk of low adult height

Frequency of metabolic syndrome and type 2 diabetes among the obese children and adolescents in Kashan during 2009-11

Background: An increase in the prevalence of metabolic syndrome (MetS) and type 2 diabetes (T2D) among the obese children is associated with such complications as the early cardiovascular diseases. This study was undertaken to evaluate the frequency of MetS and T2D among the obese children and adolescents in Kashan. Materials and Methods: This cross-sectional study was carried out on 450 obese children aged 4-18 years in Kashan. Demographic data were recorded for each case and the 12-hour fasting blood samples were collected to determine the total cholesterol, HDL, triglyceride, and plasma glucose levels. MetS was defined as the presence of at least three of the following five criteria: (1) BMI≥95th percentile for age and gender, (2) triglyceride level >95th percentile for age and gender, (3) HDL level<5th percentile for age and gender, (4) impaired fasting glucose≥100 mg/dL, and (5) systolic or diastolic blood pressure≥95th percentile for age and height. Results: Among 450 children, 227 (50.4%) cases were male and 223 (49.6%) female. The mean age of children was 10.3±3.18 years. One hundred fifty-four cases (34.22%) had MetS and 7 cases (1.3%) met 5 criteria for MetS. Moreover, three cases (0.7%) had T2D. Conclusion: Significantly high frequency of the metabolic syndrome in obese children and adolescents in this city can signal a wide range of adverse health effects

Prevalence of fatty liver disease in obese children and adolescents who referred to pediatric clinic of Kashan university of medical sciences, Iran (2012-2013)

BACKGROUND AND OBJECTIVE: Obesity in children increases the risk of non-alcoholic fatty liver disease. Since the prevalence of obesity is growing worldwide and in Iran, this study aimed to determine the prevalence of fatty liver disease in obese children who were referred to pediatric clinic of Kashan University of Medical Sciences, Kashan, Iran. METHODS: A cross-sectional study on 306 obese children aged 4 to 18 years was done. Demographic data, type of milk in infancy, weight, height, waist circumference and blood pressure were recorded. Liver ultrasonography for sonographic evidence of fatty liver disease was performed and laboratory measurement including fasting blood glucose, insulin, serum lipid profile and liver enzymes was done. FINDINGS: In this study, 306 obese children (178 girls and 128 boys) with a mean age of 9.55±3.2 year enrolled. Fatty liver was diagnosed by ultrasound in 163 (53.3) of children (92.5 had grade1 and 7.5 grade 2 fatty liver). The average body mass index (BMI) was 24.6 ±3.3 in subjects without fatty liver and 27.6±4.6 in fatty liver grade1, and 29.6±4.4 in fatty liver grade 2 subjects. Children with fatty liver disease had higher level of insulin, triglycerides and SGPT and lower level of HDL. CONCLUSION: The results of this study showed that over half of obese children had fatty liver disease. According to the high prevalence of obesity and fatty liver disease, it is appropriate to apply methods for change in lifestyle and diet and new studies should be designed for treatment of fatty liver disease. © 2013, Babol University of Medical Sciences. All rights reserved

Changing in thyroid function test in children underwent antiepileptic therapy

Objective To determine the changes in thyroid function tests in children who underwent antiepileptic therapy in Shahid Beheshti Hospital, Kashan, in 2008. Materials & Methods This analytical-observational study was carried out in a cohort fashion without an external control group (self controlled) on 45 children with new onset epilepsy who had not been previously treated with antiepileptic medications. Three subjects were excluded from the study because of presenting clinical symptoms of hypothyroidism. Plasma levels of TSH, T3, FT3, T4 and FT4 hormones were measured and compared at baseline and 3 and 6 months after treatment. Results The results of Mann-Whitney statistical analysis suggested that the increase in the plasma level of TSH was significant only in the Sodium Valproate group. The plasma level of T3 significantly decreased 3 and 6 months after treatment in the Phenobarbital group while the plasma level of FT3 significantly decreased only in the Sodium Valproate group. The decrease in T4 plasma level was significant in all groups (Carbamazepine group, Sodium Valproate group and Phenobarbital group) 3 and 6 months after the onset of treatment but the decreasing in FT4 plasma level was only significant in the Carbamazepine group 6 months after the commencement of treatment. Conclusion Phenobarbital had the least effect on thyroid hormones. Considering the effect of such medications on thyroid function tests, it seems necessary to check the plasma levels of hormones periodically after beginning the treatment

Comparing carotid intima-media thickness between the type 1 diabetes mellitus and healthy individuals

Background: Increased carotid intima-media thickness (CIMT) is considered as a marker for early detection of atherosclerotic changes in the arterial walls. The purpose of this study was to assess CIMT in type 1 diabetic patients compared to controls. Materials and Methods: A case-control study was performed on 34 patients with type 1diabetes mellitus and 33 healthy people in Kashan during 2013-2014. The inclusion criterion was the diabetes history more than one year and the exclusion criteria were the use of antihypertensive or lipid reducing drugs, smoking, family history of cardiovascular disease, any complications of diabetes and any chronic disease. The weight, height, blood pressure and CIMT of the patients were measured. Moreover, laboratory tests including fast blood sugar, Hb A1c and lipid tests were performed.Results: Sixty-seven subjects (34 type 1 diabetes patients and 33 healthy controls) were evaluated. The mean history of diabetes mellitus was 76.03±51.44 months. The mean age of the healthy subjects was 15.35±5.73 years and for the patients 15.25±7.94 years. Mean CIMT in healthy subjects was 0.439±0.06 mm and in patients 0.478±0.05 mm (P=0.005). Moreover, maximum CIMT was higher in the patients than in the controls (P=0.01). The multiple linear regression showed that CIMT was about 0.012 units higher in diabetic patients than in controls, and also CIMT was increased 0.012 units per one unit increase in HbA1c values.Conclusion: The mean CIMT in patients with type 1diabetes was higher than in the controls and positively correlated with the history of diabetes, while it does not correlate with the lipid profiles, blood pressure and body mass index