Typical Turner's syndrome with 45 XO karyotype and normal menstruation. Cytogenetic and histological findings.
The clinical, laboratory, histological and cytogenic findings in a patient with Turner's syndrome with normal menstruation are presented. Although the phenotype and karyotype were those of Turner's syndrome, normal sexual development and periods occurred at puberty. The endocrine studies revealed onyl a mild diabetic oral glucose tolerance test. At laparotomy, normal uterus, Fallopian tubes and ovaries were seen. Histological examination of the ovaries showed several primordial follicles and a follicle cyst. Tissue cultures of lymphocytes, skin fibroblasts and ovary revealed a single line of cells with the 45 XO karyotype. Although 25 cases of Turner's syndrome with normal sexual development have been reported, most of them were mosaics and only a small number showed the pure 45 XO karyotype.
D000293:Adolescent; D005260:Female; D006801:Humans; D007621:Karyotyping; D007813:Laparotomy; D008598:Menstruation; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*