Rapid Sex Determination Using PCR Technique Compared to Classic Cytogenetics
Abstract
Background: 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.
Objective: This work was done in order to test the value of PCR technique for rapid sex determination compared to classic
cytogenetic technique.
Methods: 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 amplication
for the detection of SRY and ATL1 gene loci on Y and X chromosomes respectively.
Results: 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 amplication for both Y and X
chromosomes with a mosaic karyogram 46,XX/XY. Three neonates were diagnosed as cases of adrenogenital syndrome showed
positive amplication of only the Xchromosome and had a karyogram of 46/XX. One of the two adult females was diagnosed as
turner syndrome showed positive amplication of the X chromosome and a karyogram of 45/XO; the other one was diagnosed
as complete testicular feminization had a positive amplication of X and Y chromosomes and a karyogram of 46/XY. The 8 adult
males with infertility showed a positive amplication of X and Y chromosome and a karyogram of 47/XXY (Klinefelter syndrome)
in 7 cases and 46/XY gonadal dysgenesis in one case.
Conclusion: We concluded that PCR as a simple, rapid and reliable technique can complement and also conrm cytogenetic
studies in the diagnosis of sex in cases of sex chromosome disorders.
Keywords: PCR, Sex, Intersex, Ambiguous genitalia.
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.
Objective: This work was done in order to test the value of PCR technique for rapid sex determination compared to classic
cytogenetic technique.
Methods: 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 amplication
for the detection of SRY and ATL1 gene loci on Y and X chromosomes respectively.
Results: 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 amplication for both Y and X
chromosomes with a mosaic karyogram 46,XX/XY. Three neonates were diagnosed as cases of adrenogenital syndrome showed
positive amplication of only the Xchromosome and had a karyogram of 46/XX. One of the two adult females was diagnosed as
turner syndrome showed positive amplication of the X chromosome and a karyogram of 45/XO; the other one was diagnosed
as complete testicular feminization had a positive amplication of X and Y chromosomes and a karyogram of 46/XY. The 8 adult
males with infertility showed a positive amplication of X and Y chromosome and a karyogram of 47/XXY (Klinefelter syndrome)
in 7 cases and 46/XY gonadal dysgenesis in one case.
Conclusion: We concluded that PCR as a simple, rapid and reliable technique can complement and also conrm cytogenetic
studies in the diagnosis of sex in cases of sex chromosome disorders.
Keywords: PCR, Sex, Intersex, Ambiguous genitalia.
Settin, A., Elsobky, E., Hammad, A., & Al-Erany, A. (2008). Rapid Sex Determination Using PCR Technique Compared to Classic Cytogenetics. International Journal of Health Sciences, 2(1). Retrieved from https://pub.qu.edu.sa/index.php/journal/article/view/69
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