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

Association of pediatric stress hyperglycemia with insulin metabolism disorders

Transient hyperglycemia is a condition that happens during acute physiologic stress in children. The aim of this study is to determine if there is any relation between stress hyperglycemia and diabetes mellitus and metabolic syndrome in pediatric patients. The study was performed on children hospitalized in Amirkola pediatric hospital, North of Iran, between February 2011 to January 2013. Children with a history of stress hyperglycemia were studied for the presence of metabolic syndrome or Anti GAD65 Autoantibodies. A total of 50 patients were studied. None of our patients had developed type 1 diabetes. OGTT was normal in all patients. Metabolic syndrome was present in 2 cases [4%]. The prevalence of insulin resistance was 16%. The most common metabolic abnormality noted was hypertriglyciredemia and one patient was positive for GAD 65 autoantibody. According to our data children with stress hyperglycemia do not appear to be at increased risk of developing type 1 diabetes but insulin resistance is relatively common in these patients

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

Hypercalciuria, a promoting factor to urinary tract infection in children

Urinary tract infection [UTI] is one of the most common diseases of urogenital tract in children. Detecting predisposing factors for UTI takes an important place in managing patients with UTI. Recently, a few studies emphasized on idiopathic hypercalciuria [IH] as a predisposing factor for UTI and dysfunctional voiding. Therefore, we carried out a survey to find out whether non-calculus IH is a contributing factor in children with the first attack of pyelonephritis. This is a case-control study carried out on 60 children aged 2-11 years admitted at St Al-Zahra hospital, Isfahan, Iran, with the first episode of upper UTI and 200 age- and gender-matched normal healthy children between September 2003 and February 2005. We used second fasting spot urine sample to measure calcium and creatinine. Two urine samples were obtained one week apart to increase the accuracy of measurement. All samples were collected after at least 6 weeks of completing the treatment course of pyelonephritis. Ultrasound examination and VCUG were performed in all patients before entering the survey as case group to rule out obstruction and VUR. Mean age of case and control group were 4.86 +/- 3.08 years and 4.22 +/- 2.9 years, respectively. The mean calcium to creatinine ratio [Ca/Cr] in case and control group were 0.308 +/- 0.21 and 0.208 +/- 0.12 mg/ mg, respectively, P < 0.001. The difference between the mean values of these two groups was significant only in age group <6 years, P < 0.0001 and odds ratio was 2.1 [95% CI 1.03-7.8]. After determining the mean values of urine Ca/Cr ration according to both age groups and gender, it was cleared that only significant difference was related to male <6 years. The likelihood of hypercalciuria should be assessed especially in male children with UTI and without any urinary tract obstruction