Eighteen patients with Turner´s syndrome, who were referred to the Cytogenetic Laboratory, Seoul National University Hospital, during the past 5 year period (1971 June-1976 Oct) were evaluated by the cytogenetic studies.
The results were as follows;
1) The patients ranged in age from 2 months to 31 years, when first observed, the median age being 19 years.
2) Clinically, 15 patients showed typical Turner´s somatic stigmata, whereas 3 patients showed no Turner´s phenotype, but only amenorrhea and sexual underdevelopment.
3) The sex chromatin studies by the buccal smears were done in 16 cases, which revealed negative in 9 cases, low positive in 5 cases and positive in 1 case.
4) The karyotypes, obtained by the peripheral lymphocyte cultures, showed as follows:
(1) 45,X: 7 cases.
(2) 45, X/46, XX: 5 cases.
(3) 45, X/47, XXX: 2 cases.
(4) 46, XXq- : 3 cases.
(5) 46, XY: 1 case.
The case with the karyotype of 46, XY showed typical Turner´s somatic stigmata, as well as a huge lower abdominal mass. The pathologic results after operation, revealed dysgerminoma on the left gonad, and gonadoblastoma on the right.
|