CONTRIBUTION TO THE STUDY OF THE SO-CALLED PURE GONADAL DYSGENESIS

Abstract

ABSTRACT A tabular review is given of 38 cases from the literature classified by the present authors as possible cases of »pure gonadal dysgenesis« (Stewart 1960). The congenital malformations commonly found in gonadal dysgenesis (Turner's syndrome and similar conditions) may vary between severe disorder and a practically normal development. Thus the »pure« cases cannot sharply be distinguished from other cases of gonadal dysgenesis. Furthermore the cytological evidence indicates that the condition may develop on different genetical bases, including XX, XY, XY/XX, XY/XO, XO/XY/XYY, XO/XX and XO/Xdeleted-X sex chromosome patterns. It is concluded that the value of the syndrome classification, pure gonadal dysgenesis, is doubtful. Data on the differential diagnosis between »pure gonadal dysgenesis« and testicular feminization are given. Case reports are given of male chromosome patterns in two sisters with »pure gonadal dysgenesis« and dysgerminoma respectively.