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Fırat Tıp Dergisi |
2008, Cilt 13, Sayı 1, Sayfa(lar) 028-031 |
[ Turkish ] [ Tam Metin ] [ PDF ] |
Cytogenetic and Molecular Evaluation of Ambiguous Genitalia In Pediatric Patients |
Hüseyin YÜCE, Ebru ETEM, Ülkü ÖZBEY |
Fırat Üniversitesi, Tıp Fakültesi Tıbbi Biyoloji Anabilim Dalı, ELAZIĞ |
Objective: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions such as salt-losing crisis in congenital adrenal hyperplasia (CAH) and gender assignment. Sex assignment in these newborn continues to be a challenging diagnostic and therapeutic problem. In our study, we aimed to investigate the causes and characteristics of ambiguous genitalia in 21 newborn who were referred to a cytogenetic laboratory.
Materials and Methods: Cytogenetic analysis was performed for each case. The cases were analysed by also molecular genetic and interphase FISH technique to exhibit exist Y. Chromosome molecular genetic analysis was performed for Y chromosomal loci (SRY, ZFY, SY84, SY86, SY127, SY134, SY254, SY255). Genomic DNA was extracted from peripheral blood. Results: In all of patient were detected 46,XX and 46,XY karyotype by cytogenetic analysis. 21 cases were successfully analyzed by interphase-FISH. Some individuals carry a Y chromosome but are phenotypically female or one of cases have a female karyotype but are phenotypically male. Conclusion: The correlation between genotype (SRY+/-) and phenotype is still unclear. The etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early decision. ©2008, Firat University, Medical Faculty |
[ Turkish ] [ Tam Metin ] [ PDF ] |
[ Ana Sayfa | Editörler | Danışma Kurulu | Dergi Hakkında | İçindekiler | Arşiv | Yayın Arama | Yazarlara Bilgi | E-Posta ] |