This study was conducted to determine the frequency of vitamin D deficiency and its correlation with different factors. Three hundred and thirteen healthy children and adolescents (192 females and 121 males aged 8-18 years, mean +/- SD, 12.7 +/- 2.3 years) were enrolled, and measurements of serum 25-hydroxyvitamin D [25(OH)D] (using EIA) and intact parathyroid hormone (iPTH) (using immunoradiometric assay (IRMA)) were conducted. The grades of vitamin D status were defined according to blood level of 25(OH)D as follows: severely deficient < 12.5; deficient, > or = 12.5 and < 25; insufficient, > or = 25 and < 50; normal > or = 50 and < 250 nmol/L. Severe deficiency was detected in 25% of subjects (males 8%; females 92%), deficiency in 27% (males 34%; females 66%) and insufficiency in 26% (males 58%; females 42%). The mean 25(OH)D level in males was significantly greater than that in females (p < 0.001), and this level was significantly higher in prepubertal compared to pubertal subjects (p < 0.001). 25(OH)D had a negative correlation with iPTH (p < 0.001). The curve of iPTH began to rise when 25(OH)D reached 75 nmol/L. The level of 25(OH)D had a negative correlation with BMI-SDS and height-SDS in females (p-value, 0.01 and 0.039, respectively). The subjects did not have any signs or symptoms of rickets. Frequency of vitamin D deficiency did not have any significant seasonal variation. Furthermore, vitamin D deficiency was not found to be related to the type or location of the subjects' homes. In this study, subclinical vitamin D deficiency was significantly more prevalent in females, particularly those undergoing puberty. Children who were obese and taller than average, had lower levels of 25(OH)D, and level of 25(OH)D should be maintained > 75 nmol/L in order to prevent PTH rising.

Background: Vitamin D deficiency is common among children and adolescents and can be affected by several factors such as puberty and obesity. Objective: The aim of this study was to evaluate vitamin D status in children and adolescents and to analyse the influence of puberty and obesity on its level. Method: A cross-sectional study was carried-out, in which clinical and biochemical data were gathered from 384 healthy children and adolescents between May 2019 to May 2020. Results: 220 females and 164 males were enrolled (aged 7-16 years; mean ± SD: 11 ± 2.5). Vitamin D deficiency was found in 49% of the total cases and was significantly more prevalent in females than males (33.1% in female; 15.9% in male, P < .001). Mean vitamin D level was lower in obese children compared with non-obese ( P < .001). Non-obese group had significantly higher levels of vitamin D in Tanner stage IV of puberty than obese individuals (20.1 ± 17.0 vs 5.4 ± 2.0) ( P = .03). Vitamin D levels were significantly lower in females than males only in Tanner stage II (12.3 ± 9.0 vs 19.6 ± 16.6) ( P = .005). The lowest level of Vitamin D was in Tanner stage Ⅳ-Ⅴ in boys and in Tanner stage Ⅱ-Ⅲ in girls ( P < .001). Conclusion: Puberty is an additional risk factor for vitamin D deficiency especially in girls and obese children. This increased risk, together with the fact that most important time for building a proper skeleton is during childhood and adolescent, makes it essential to monitor vitamin D in these age groups.

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Background: There are several reports of recurrent infections in patients with organic acidemia. Almost all studies on the immune system of these patients have investigated the immune system in the acidotic phase of the disease. In the present study, the phagocytic component of the immune system was evaluated in patients with organic acidemia. Methods: After exclusion of patients in the acidotic phase of the disease, 31 patients with organic acidemia were included in the study. All patients completed the written informed consents, and the study was approved by the ethics committee of Mofid Children's hospital. Information including age, sex, type of organic acidemia, and history of hospitalization due to infection was recorded. Screening tests of phagocytic component of the immune system, including total and differential white blood cell (WBC) count and nitroblue tetrazolium (NBT) test, were performed for all the patients. Results: The prevalence of neutropenia was high among patients (22.6%); it was even more frequent in patients younger than 3 years (42.6%). On the other hand, in most patients (93.5%), neutrophils showed normal function on the NBT test. Conclusions: Neutropenia in the nonacidotic phase of organic acidemia can be the cause of recurrent infections in these patients. It can be independent of bone marrow suppression, caused by reduced production of these cells as a result of reduced pH in the acidotic phase of the disease.

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. We report a 3-year-old Iranian girl with refractory anemia, splenomegaly and radiologic signs of metadiaphyseal dysplasia in long bones. The diagnosis was established by clinical presentation and X-ray bone survey. The patient was treated with oral prednisolone therapy with considerable improvement in anemia and splenomegaly.

Early-onset diabetes, liver dysfunction, growth retardation, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (WRS). Eukaryotic translation initiation factor 2α kinase (EIF2AK3) is the only known gene, which is responsible for this rare autosomal recessive disorder. Here, we report two siblings a girl and a boy with diabetes mellitus (DM) who presented in one and two months of age respectively. Recurrent self-limiting hepatitis developed later, and severe hepatic failure resulted in death of the first child. The second child visited was a 7.75 year old boy who had spondyloepiphyseal dysplasia and subclinical hypothyroidism besides DM and recurrent hepatitis. We suggested WRS for this patient, and it was confirmed by identification of a novel homozygous missense mutation (Q166R) in exon 3 of the EIF2AK3 gene. The aim of this report is to remind the possibility of WRS in isolated neonatal diabetes; while, the other clinical manifestations of this syndrome including its major symptom of recurrent hepatitis may appear later.

Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGUOK genes and deficiencies of cystathionine β-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase. Here we present a 3-year old girl with a history of poor feeding, irritability, respiratory infections, cholestasis, congenital heart disease, neurodevelopmental delay, hypotonia, sparse hair, facial dysmorphisms, liver dysfunction, severe hypermethioninemia and mild homocystinemia. Genetic analysis of the adenosine kinase (ADK) gene revealed a previously unreported variant (c.479–480 GA>TG) resulting in a stop codon (p.E160X) in ADK. A methionine-restricted diet normalized the liver function test results and improved her hypotonia.

Background: Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC) and glucose-6-phosphate transporter (SLC37A4), respectively. The high rates of consanguineous marriages in Iran provide a desirable context to facilitate finding the homozygous pathogenic mutations. This study designates to evaluate the clinical and genetic characteristics of patients with GSD1b to assess the possible genotype-phenotype correlation. Results: Autozygosity mapping was performed on nineteen GSD suspected families to suggest the causative loci. The mapping was done using two panels of short tandem repeat (STR) markers linked to the corresponding genes. The patients with autozygous haplotype block for the markers flanking the genes were selected for direct sequencing. Six patients showed autozygosity in the candidate markers for SLC37A4. Three causative variants were detected. The recurrent mutation of c.1042_1043delCT (p.Leu348Valfs*53) and a novel missense mutation of c.365G > A (p.G122E) in the homozygous state were identified in the SLC37A4. In silico analysis was performed to predict the pathogenicity of the variants. A novel whole SLC37A4 gene deletion using long-range PCR and sequencing was confirmed as well. Severe and moderate neutropenia was observed in patients with frameshift and missense variants, respectively. The sibling with the whole gene deletion has shown both severe neutropenia and leukopenia. Conclusions: The results showed that the hematological findings may have an appropriate correlation with the genotype findings. However, for a definite genotype-phenotype correlation, specifically for the clinical and biochemical phenotype, further studies with larger sample sizes are needed.