Identification of mutations in Iranian patients DAX-1 gene with X-linked adrenal hypoplasia congenital

Objective [s]: X-linked adrenal hypoplasia congenital [X-linked AHC] is a rare disorder, characterized by infantile-onset acute primary adrenal insufficiency and hypogonadotropic hypogonadism [HH] at an average age of three weeks and onset in roughly 40% is in childhood. Its cause is an inactivating mutation in the [nuclear receptor subfamily 0, group B, member 1] NROB1 gene, DSS [dosage sensitive sex]-AHC vital region on the X-gene 1

Subjects and methods: In the present study, the [dosage-sensitive, sex reversal, adrenal hypoplasia congenital, important region on the X-chromosome, gene 1] DAX-1 gene from four Iranian patients with X-linked AHC was analyzed by means of polymerase chain reaction [PCR] and direct sequencing

Results: We identified a polymorphism [Rs6150] which encodes a cysteine [Cys] at position 38, a de novo deletion, c.849-928de79 bp, c.849-856ins, [TGCTGCA] mutation and a missense mutation, Leu262Gln, which encodes a leucine [Leu] for glutamine [Gin] at position 262

Conclusion: Both mentioned mutations are located at crucial and functional region DAX1 protein

They are detected in the C-terminal region of DAX1 protein which is involved by the conserved amino acid chain as well as transcriptional silencing domain. By considering other investigation, mutations in this region probably lead to produce a misfolded protein. Consequently, the misfolded protein would not work influentially in order to inhibit some gene expression

As a result, our findings will expand the variety of DAX1 mutations. On the other hand, it is revealed that these mutations play a key role in the pathogenesis of AHC, thus, recognizing these new mutations will facilitate the patients prognosis producer as well as raising the clinical knowledge about this rare disease

Congenital adrenal hyperplasia and Schmid metaphyseal chondrodysplasia in a child

Congenital adrenal hyperplasia [CAH] is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 and Schmid dysplasia in a child. The specific diagnosis of 11-beta-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums

Growth factors in cystic fibrosis

Introduction: Cystic fibrosis is one of the most common autosomal recessive diseases that affects sweat glands and mucosa. CF is a hereditary disease with annual incidence of about 2500 new cases in United Kingdom. Insulin-like growth factor-1 [IGF-1] and insulin-like growth factor binding protein-3 levels decrease in CF. The aim of this study was to assess the role of growth peptides in patients with CF

Method: We searched PubMed, Google scholar, IranMedex, and Scientific Information Database [SID] in September 2012 to April 2014. We included clinical studies with available abstracts and full texts that were in English or Persian languages. Manual searching was conducted within the reference lists of articles. Two reviewers independently applied eligibility criteria, assessed quality, and extracted data

Result: The earliest study was published in 1997 and the most recent one was in 2014. Study participants were adults in 3 studies [20%] and 12 studies [80%] were conducted in children. Patients with CF have lower levels of IGF-1 and there is a significant correlation between IGF-1 levels and growth index in patients with CF

Conclusions: IGF-1 decreases in children with CF and might be the cause of poor growth and low body mass index in these children

Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report

Fragile X syndrome [FXS] is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS syndrome including seizures, facial abnormalities, macroorchidism, and autistic disorders. Here we reported a 9-year-old boy with fragile X syndrome that was confirmed through karyotyping and mental retardation. Initially, he was diagnosed as hypothyroidism when he was 15 months old. However, due to unusual clinical presentation, we re-evaluated the patient according to his history and clinical findings. Subsequently, targeted laboratory tests were performed and the results were indicative for thyroxin-binding globulin [TBG] deficiency in our patient. Therefore, levothyroxine was discontinued and one month later, laboratory tests were repeated and his diagnosis confirmed. As inherited TBG deficiency might also be X-linked, FXS and TBG deficiency may be coincidental findings in the patient

effects of Ramadan fasting on the level of sex hormones in pre-menarche girls in Mashhad, Iran

The present study aimed to evaluate the effects of Ramadan fasting on the level of sex hormones in girls between 9-13 years before age at menarche. This study was conducted on a sample of 58 subjects [age range: 9-13 years], who were divided into two groups of fasting [N=31] and non-fasting [N=27]. The levels of follicle-stimulating hormone [FSH], luteinizing hormone [LH], progesterone and estradiol were measured in all the subjects before and after Ramadan. Measurements were carried out three days before the start of Ramadan, and one day afterwards. In this study, FSH levels significantly increased in the non-fasting group [P=0.01], and the level of Dehydroepiandrostenedione [DHEA] had a significant decrease during the time of study in both groups [P=0.001, P=0.006]. In addition, serum levels of LH significantly increased in the non-fasting group after Ramadan [P=0.006], and estradiol significantly increased in both groups [P=0.008, P=0.004]. Given the similar changes in the levels of DHEA, progesterone and estradiol in both study groups, it could be concluded that fasting has no effects on these parameters, and the changes in LH and FSH levels could be due to other contributing factors

Maternal knowledge and attitude toward exclusive breast milk feeding [BMF] in the first 6 months of infant in Mashhad

Breast milk is a complete food for growing children until 6 months of age, and mothers, as the most important child health care, play a decisive role in their growth. So promoting their attitude toward the benefits of breastfeeding ensures guarantee child health in the future. This study aimed to assess maternal knowledge and attitude of Mashhad toward exclusive BMF in the first 6 months of infant life. This cross-sectional descriptive-analytic study was conducted on 126 mothers who referring to Mashhad health-care centers for monitoring their 6-24 month year old infants. They completed questionnaire. Participants were selected by cluster and simple random sampling. Data were analyzed by descriptive- analytic tests and using SPSS 11.5. Mean score of maternal attitude toward exclusive BMF was 14.32 +/- 5.28 [out of 28] and maternal knowledge score toward advantages of breast milk was 19.59 +/- 4.80 [out of 28]. The incidence of exclusive BMF in the first 6 months of life study was 73.8%. Child growth was as follows: excellent growth [5.6%] and good growth [42.1%]. ANOVA showed a significant difference between parents' education and maternal attitude towards exclusive BMF; whatever higher education of parents, more positive maternal attitude towards exclusive BMF [P<0.05]. There was a significant direct relationship between knowledge and attitude [Spearman test, P-value= 0.000 and r= 0.4]. Maternal attitude towards exclusive BMF was moderate. It is essential to plan for mothers by officials in order to promote breast-feeding in the first 6 months of baby's life to enhance positive maternal attitude in this regard

Congenital rickets: report of four cases

Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure. In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented. Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children, it is necessary to evaluate women before pregnancy to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets

Assessment the relationship between parents' literacy level with children growth in Mashhad: An analytic descriptive study

Present children are the investments of community in the future. Preparing children health which leads to the stability of community health, provided to accurate implementation of educational and health programs in the community and especially in mothers. So it is necessary to determine the relationship between parents' literacy with growth rate in children. This cross-sectional descriptive-analytic study was conducted on 300 mothers referring to 10 selected Mashhad health-care centers for monitoring their 6-24-month year old infants. They completed questionnaire. Participants were selected by cluster and simple random sampling. Data were analyzed by descriptive- analytic statistics and using SPSS 16. Present findings showed a significant relationship between literacy level of parents with child growth status, breast feeding rate, junk food consumption, referring to health care center for growth monitoring, the age of initiating supplementary nutrition, the use of oil and butter in baby food and rate of attending in educational classes. So that higher literacy level of parents was associated with using more formula, less junk food, oil and butter in baby's food and more referring times to health care center for monitoring child growth, desirable growth, and also initiating supplementary food more at the assigned time [P<0.05]. Parents' literacy level influence on children growth status. However, with increasing parents' literacy level, using formula for infants has been increased, but breast milk feeding is also high in this group

Precocious puberty: An unusual presentation of hypothyroidism

Hypothyroidism is usually associated with delayed pubertal development but in rare occasions precocious puberty may ensue which is seen in cases of prolonged and untreated hypothyroidism. This is also called the Van Wyk Grumbach syndrome. Here we present 4 cases of precocious puberty due to hypothyroidism

Iron and multivitamin supplements in children and its association with growth rate

Vitamin deficiency and iron deficiency anemia are common nutritional problems, at least in children under 5. These materials shortage, especially in the first two years of life, impair physical and brain growth, reduces the child's learning ability, reduces body resistance against infections, behavioral changes, apathy and finally social and economic adverse consequences would be followed. This study aimed to determine the supplements used in children under two years and its Association with Growth rate in Mashhad City. In this cross-sectional descriptive study, 300 children 6 to 24 months were recruited in health centers in Mashhad, Data was collected from mother and children' records and valid and reliable questionnaire was used to collect data. The data was analyzed by statistical tests and SPSS 11.5 and P<0.05 was considered significant. Results showed that 13.7 percent of families were with low income, 82.7 percent middle income and 3.7 percent well income. In growth chart, 86.7 percent of children showed appropriate growth, 10.3 percent had delayed growth and 3 percent had horizontal growth curve .In 80.7 percent of families, maternal multivitamin and iron drops have been used to their children regularly, 1.7 percent did not believe in these supplements and 17.7 percent of mothers sometimes used these supplements for their children. Results also showed statistical correlation significant variables of parental education, family income, mothers referred to health centers for monitoring the growth and get face to face training of personnel center drops of multivitamin with iron and growth status of children variable is available, so children who regularly have used supplements and income level and above are literate parents have grown more favorable than the other kids [P<0.05]. Regarding the importance of iron and multivitamin use in children under two years, necessary training must be provided to mothers in this field by health centers personnel. Meanwhile, it is recommended that the authorities must distribute periodical and enough drops to health centers

effect of Ramadan fasting on thyroid hormones in 9-13 years old pre-menarche girls

Muslims fast from dawn to dusk during Ramadan. The effects of prolonged food deprivation on endocrine hormones have been studied in healthy adults but no previous study has investigated this effect on children. This study aimed to evaluate the feasible changes in serum level of thyroxin [T3], tetraiodothyronin [T4], thyroid stimulating hormone [TSH] and body composition in pre-menarche girls. This cohort study was performed through Ramadan 2012. We enrolled fifty-eight 9-13 years old girls [weight 34.20 +/- 7.96 kg, height 142.01 +/- 7.76 cm] in two groups from [31 and 27 in fasted and non-fasted groups, respectively] prior to Ramadan until afterwards. Weight and height of the subjects were measured using standard methods, and then Body Mass Index [BMI] was calculated. Body composition was measured using Bio Impedance Analyzer [BIA] method. Serum concentrations of T3, T4 and TSH hormones were measured by Radio Immunoassay [RIA]. Paired t-test was used to compare result of each group before and after Ramadan. Independent t-test was used to compare two groups together. Tanner intervention variable was controlled by generalized linear models intervening test. SPSS.11 software was used for data analysis. Ramadan fasting induces a significant decrease in BMI and weight on fasted group [P=0.005, P=0.044, respectively] while a significant increase was observed in non-fasted group [P<0.001]. Although, T3 decreased significantly by fasting [P<0.001], it remained in the normal range. Hence, T4 decreased and TSH increased slightly in both groups. According to our findings, despite a significant reduction of T3 in fasting group, variation in thyroid hormones level remained in the normal range during Ramadan fasting

Novel mutation in the SLC19A2 gene in thiamine-responsive megaloblastic anemia [Rogers' syndrome]

The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Described here are three children from consanguineous Iranian families with thiamine - responsive megaloblastic anemia [TRMA] or Rogers' syndrome. Case one and two were siblings of healthy first-cousin parents and case three from a healthy second-cousin couple. These cases presented with hyperglycemia, anemia, and hearing loss. Thiamine reversed the anemia and there was a satisfactory response for the hyperglycemia as well. In all three patients, direct sequencing revealed a homozygous mutation c.38 G>A [P.E.128K] resulting in the substitution of glutamic acid to lysine at position 128 in exon 2 of the SLC19A2 gene on chromosome 1q23.3. This novel mutation was confirmed by the PCR RFLP assay of more than 100 control alleles. TRMA or Rogers' syndrome should be considered for patients with diabetes [DM] and other symptoms, including hearing loss and anemia. Early diagnosis can assist families in planning future pregnancies. The administration of thiamine ameliorates the megaloblastic anemic condition and produces a better response in DM

Clinical and molecular genetic analysis of Iranian patients with neonatal diabetes demonstrating mutations in KCNJ11 gene

We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R [No Locus, GU170814; 2009] was identified in the kir6.2, the pore-forming subunit of the KATP channels from pancreatic beta -cells. Our results demonstrated that activating mutations in KCNJ11 gene could cause Permanent Neonatal Diabetes Mellitus [PNDM] with onset prior to six months

Effects of zinc supplementation in occurrence and duration of common cold in school aged children during cold season: a double-blind placebo-controlled trial

Zinc deficiency is common in children in developing countries due to low intake of animal foods, and high dietary phytate content. Zinc deficiency impairs overall immune function and resistance to infection. The effect of zinc on the common cold is still questionable. To determine whether supplementation of zinc could reduce frequency rate and duration of common cold during cold season in school aged children living in a low socioeconomic suburb of Mashhad [Altimor], north-east Iran. we designed a randomized double-blind, placebo-controlled efficacy trial. Subjects were 200 grade 2 primary school children who all completed the trial. Intervention supplementation was zinc sulfate tablets [10 mg elemental] and placebo tablets for case and control groups, respectively. Tablets were taken on a daily basis, 6 days a week, for 5 months [November to March].Among the zinc-supplemented group common cold incidence of 1.37 +/- 0.86 episodes per child during the study period was recorded in comparison to 3.15 +/- 0.55 cold episodes per child among the placebo group [P<0.001]. Mean overall missing days from school was 0.55 +/- 1.09 days and 1.35 +/- 1.79 days for zinc-supplemented and placebo groups, respectively. [The need for administration of antibiotics for bacterial infections [pharyngitis, acute otitis media, sinusitis, pneumonia] were 20 and 47 courses for zinc-supplemented and placebo groups, respectively [P<0.01]. This study showed that zinc supplementation has a beneficial impact on the occurrence of common cold

Effect of a high dairy diet on serum antibody titers to heat shock protein 27 in overweight and obese children

An immune response to heat shock proteins appears to be involved in atherogenesis. To date, there has been no report on the impact of dairy or calcium consumption on serum antibody titers to heat shock protein 27 [anti-HSP27]. We have investigated whether an increase in dairy food consumption is capable of affecting serum antibody titers to heat shock protein 27 [anti-HSP27] level in children. Overweight and obese children [n=99, age: 12-18 y, body mass index: 27-40 kg/m2] were randomized to receive a calorie restricted diet providing a 500 kcal/d deficit from total energy expenditure and two [n=38], three [n=26] or four [n=35] servings of dairy products/day. Serum anti-HSP27 level in addition to the serum hs-CRP and lipid profile were measured at baseline and after 12 weeks. Serum anti-HSP27 concentrations did not change significantly in any of the mentioned groups. Serum hs-CRP and lipid profile did not change significantly either, apart from a significant increase in HDL-cholesterol in the low-dairy group. An increased intake of dairy products does not lead to a significant change in serum anti-HSP27 level in overweight and obese children

[Evaluating the correlation between HbA1C and growth parameters, lipid profile in children and adolescents with type 1 diabetes]

Type 1 diabetes is the most common endocrine disorder in children. The disease is associated with a variety of complications including growth abnormalities. The aim of this study was to evaluate the role of diabetes and blood sugar control on physical growth [height and weight], growth parameters and lipid profile. This descriptive cross- sectional study took place from July 2006 to July 2007. A total of 154 children and adolescents with diabetes type 1, evaluated for their growth parameters, lipid profile, and its correlation with duration of diabetes and mean HbA[1C]. The mean age of diabetes diagnosis recorded 6.2 +/- 3.1 year. The mean height growth velocity was 4.8 +/- 1.48 cm and the mean weight growth velocity 3 +/- 1.5 kg in one year. In the first group with HbA1c /= 8 [mean +/- 1SD], yearly height and weight growth velocities measured 3.2 +/- 1.22 cm and 3.03 +/- 1.2 kg in turn. Moreover, in the first group TC, LDL, HDL and TG were 163.1 +/- 34 mg/dl, 109.3 +/- 22 mg/dl, 49.5 +/- 1 mg/dl, 116.3 +/- 55 mg/dl and in the second group 172.6 +/- 46 mg/dl, 122.4 +/- 80 mg/dl, 48.5 +/- 1 mg/dl, 153.3 +/- 1.5 mg/dl in the order mentioned. In the group with disease duration less than 5 years, height and weight growth velocities were 5.7 +/- 1.4 cm and 3.3 +/- 1.6 kg and in group with disease duration more than 5 years, height and weight velocities reported 3.74 +/- 1.2 cm and 3.3 +/- 1.2 kg annually respectively. According to this study, there was no correlation between the mean of height, weight growth velocities and metabolic control in both groups. However, the height growth disorder and increase in the level of TG were correlated with the duration of disease. Also, lipid profile [dislipidemia] was associated with the lack of metabolic control

study of delayed puberty in females referred to pediatric endocrine clinic for 5 years [from 78/12/29 to 82/12/1]

The study of causes of delayed puberty in female referred to pediatric endocrine ward of university centers of Mashhad University of Medical Sciences from 1374 to 1382. This study was done both retrospectively and prospectively in a descriptive analytic manner. The studied population were 31 girls with delayed puberty referred to endocrinology pediatric clinic. The data was collected through history, physical examination, completing questionnaires, and was compared by T Test student Statistical analysis performed with SPSS-excel. On the whole, 31 girls with delayed puberty were studied. The mean age of the patients was 14.93 +/- 1.46 yr. Average bone age and weight was 10 +/- 1.5 and 31 +/- 8.3 gr respectively. Z score of Height and weight for Age was -3.83 an -2.68 respectively. Serum estradiol level in all patients was less than normal. Delayed puberty in 27% was constitutional, 23% had Turner syndrome. Major thalassemia was the cause in 13% of the cases. The prevalence of hypothyroidism in the population was 10% other systemic diseases such as, fancony syndrome etc were the less common causes of delayed puberty. Constitutional delayed puberty [27%] and Turner syndrome [23%] were the most common causes of hypogonadism and delayed puberty which concurs with other studies. The prevalence of major thalassemia [13%] is more than other studies which needs further studies. Attention to signs of puberty in the girls referring to physician at the time of puberty, leads to early diagnosis of delayed puberty in the patients. And also karyotype study is recommended in all girls with short stature and growth retardation

Nager's acrofacial dysostosis with hypertrophic cardiomyopathy

Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually encountered in published cases

critical review of epidemiology and predisposing factors of accidents in children

Accidents are the most common preventable causes of death in children. Recognition of predisposing factors can help in institution of appropriate preventive measures. In this study, data of accidents and injuries in children [0-16 years of age] hospitalized in emergency department of three collegiate hospitals were obtained from hospital charts and interviews with parents, and the results were analyzed with the SPSS software. Among 271 children hospitalized during the study, 62.4% were males and 37.6% were females. The most prevalent age of accident outbreaks was between 12-16 years of age followed by the age group of 4-8 years. The most prevalent categories of accidents included falls - 38.4%, burns - 21.8%, poisonings - 20.7%, motor accidents - 14.8%, homicides - 3% and drowning and near-drowning - 1.5%. 242 of investigated cases were without complications, 27 led to disability and permanent sequel and 2 cases led to death. The most common time of day for accidents was the afternoon in the case of motor accidents mornings for burns, and noon for drowning. Accidents are more prevalent among teenage boys and pre-school children, especially in crowded low-income families. With regard to high incidence of accident fatality rate in our study we recommend institution of a comprehensive information system to effectively gather data, the results of which can be accessible to primary health care personnel and parents. Preventive measures to be taken include more strict and definite traffic rules, envisioning security facilities in homes and production of safe industrial pharmaceuticals