Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism. Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.
Background. Hematometrocolpos is a rare complication following procedures performed on the female genital tract. While usually seen in adolescents with congenital anomalies including imperforate hymen and vaginal stenosis, it has also been described following obstetric vaginal lacerations. The incidence following cesarean delivery is unknown. Case. This is a 43-year-old multigravida who underwent a low transverse cesarean delivery complicated by uterine dehiscence, as well as cervical and vaginal lacerations. The repair resulted in lower genital tract obstruction. She presented seven months afterwards with severe abdominopelvic pain and secondary amenorrhea, which resolved after vaginal dilation and excision of the vaginal scar. Conclusion. Systematic inspection of the upper vagina should be undertaken following complicated cesarean delivery with vaginal extension. Hematometrocolpos after cesarean delivery should be managed similar to a transverse vaginal septum.
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