Rapid sex determination using PCR technique compared to classic cytogenetics

Fetal sexual differentiation relies on the translation of chromosomal sex established at fertilization into gonadal sex and somatic sex as development proceeds. In cases where chromosomal, gonadal, and somatic sex are incongruent in human infants and children, rapid establishment of the diagnosis and implementation of medical and surgical management is of paramount importance, since the gender identity is so important to the psychological well-being throughout life. This work was done in order to test the value of PCR technique for rapid sex determination compared to classic cytogenetic technique. Subjects included 20, cases including 10 neonates with ambiguous genitalia, 2 adult females with delayed puberty and 8 adult males with infertility, in addition to 20 normal infants of both sexes as a control group. The diagnosis of sex was attempted through examination, cytogenetic study, ultrasonography, gonadal biopsy and hormonal analysis, in addition to PCR amplification for the detection of SRY and ATL1 gene loci on Y and X chromosomes respectively. Four neonates were diagnosed as partial testicular feminization showed both positive bands for the Y and X chromosomes and a karyogram of 46/XY. Three neonates were diagnosed as true hermaphrodites showed positive amplification for both Y and X chromosomes with a mosaic karyogram 46, XX/XY. Three neonates were diagnosed as cases of adrenogenital syndrome showed positive amplification of only the Xchromosome and had a karyogram of 46/XX. One of the two adult females was diagnosed as Turner syndrome showed positive amplification of the X chromosome and a karyogram of 45/XO; the other one was diagnosed as complete testicular feminization had a positive amplification of X and Y chromosomes and a karyogram of 46/XY. The 8 adult males with infertility showed a positive amplification of X and Y chromosome and a karyogram of 47/XXY [Klinefelter syndrome] in 7 cases and 46/XY gonadal dysgenesis in one case. We concluded that PCR as a simple, rapid and reliable technique can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of sex chromosome disorders

Urinary abnormalities in asymptomatic primary school Egyptian children

To detect the prevalence of asymptomatic urinary abnormalities in primary school Egyptian children, 1670 healthy children from Dakahila governorate were screed for hematuria and proteinuria using dipstick method. They were 910 males and 760 females. At the first screening, 22 children [1.3%] had urinary abnormalities however only 12 [0.72%] out of them had urinary abnormalities at the second screening. Out of children who had urinary abnormalities, six [0.36%] had isolated hematuria [IH], two [0.12%] had isolated proteinuria [IP] and four [0.24%] had combined hematuria and proteinuria [CHP], Renal biopsy was performed on four children [two had CHP, one had IH and the other had IP]. PSAGN was identified in three children of those who had lH. While the other two had hypercalciuria and renal stone and no abnormality was detected in the sixth child. One of IP children had orthostatic proteinuria while the other had focal segmental glomerulosclerosus. The pattem of renal diseases in CHP children was PSAGN in two, diffuse mesangial proliferation in one and IgA nephropathy in the other. In conclusion, asymptomatic urinary abnormalities are not present in considerable percentage among primary school children in our locality. PSAGN is the leading cause for these abnormalities. Only three children have evidence of chronic kidney disease which raises the issue of considering the cost-benefit ratio before the national implementation of the urine screening program

Asymptomatic bacteriuria among primary school children in Dakahlia governorate

Nine hundred and sixty primary school children from Dakahlia governorate were screened for asymptomatic bacteriuria [ABU]. The prevalence of ABU was found to be 4.1%. ABU was more predominant [P 0.001] in children from rural areas [5.9%] than in those coming from urban areas [1.5%]. Females had significantly [P<0.0001] higher ABU prevalence [6.5%] than males [1.6%]. There was no difference in the prevalence of bacteriuria between younger children and older ones. From the total bacterial isolates E-Coli were the most common bacteria 2.6%, followed by Enterobius faocalls 1.8%, Klebsiolla pneumonia 0.4%, then coagulase negative staphylococci 0.3%. In conclusion, ABU is not a common finding in primary school children in our locality. It is more common in girls and in those coming from rural areas. E-CoIi is the most common isolated bacteria