Gonadal dysgeneis, Turner´s syndrome, is a clinical syndrome associated with congenital alformation such as short stature, cubitus valgus, webbed neck and sexual infantilism, which as first described by Turner in 1938. The discovery by Polani (1954) and Ford (1959) that such i´atients were sex chromatin negative and had only 45 chromosomes due to abscence of one of sex chromosomes seems to crystalinse the picture of this disease. This disease as far as we know, is the second reported case of Turner´s syndrome documented by Karyotypical characteristics in Korean literature.
A 28 year old female was admitted to the St. Mary´s Hospital, Catholic Medical -College, because of growth retardation and amenorrhea. She had short stature, webbed neck and cubitus valcus with sexual infantilsim. She had 45 chromosomes with XO type of sex chromosome in the cell cultured from the peripheral blood. The sex chromatin was negative in buccal smear.
|