Ultrasonography of Turner's syndrome

Abstract

Pelvic sonographic studies were performed on 15 phenotypic females with Turner's syndrome and varying X chromosome abnormalities. In those individuals with the 45XO karyotype, the ovaries were not visible, consistent with the classic description of absent or fibrous streak ovaries. The patients who were chromosomal mosaics showed a range of findings from absent to infantile to normal adult-size ovaries. Turner's syndrome should be suggested in individuals with delayed onset of puberty, primary amenorrhea, and short stature in whom pelvic ultrasonography fails to reveal ovaries. On the other hand, the detection of ovarian tissue by pelvic ultrasonography does not exclude the diagnosis of Turner's syndrome but does suggest that an X chromosomal abnormality other than 45XO is probably present.