Cytogenetic and molecular analysis of patients with ambiguous genitalia

Abstract EN

Ambiguity is one of the sex determination disorders which are caused by several genetic and hormonal factors.

This study was carried out to determine the association between sex external genitalia and genetic phenotype and to find the role of SRY in ambiguity.

Twenty one patients with ambiguous genitalia were involved in the study.

Blood samples were used for cytogenetic analysis and for DNA extraction for PCR analysis with SRY and SMCX primers.

In this study we examined 21 patients with ambigiuity and we grouped them into two groups according to their external genitalia.

The first group consists of 6 patients with apparently female external genitalia and the second group consists of 15 patients with apparently female external genitalia plus micropenis.

Cytogenetic and molecular analyses were preformed and the cytogentic analysis revealed that 4 patients of group-1 were with 46, XY karyotype and two with 46, XX karyotype.

While 14 patients of group-2 were with 46, XX and one with mosaic karyotype.

PCR analysis of the DNA extracted from patients blood of both groups with SRY and SMCX primers or with SRY primers alone showed that discordance between PCR and cytogenetic results was detected in patient no.

5 from group-1 and patients no.

7 and 8 from group-2 where the PCR positive to SRY while the karyotype is 46, XX.

Discordance was detected between the external genitalia and cytogenetic karyotype of the patients with ambiguity.

Such discordance was confirmed by PCR analysis.