A patient with pure gonadal dysgenesis, gonadal tumour and virilisation

A phenotypic female, karyotype XY presented with virilisation and amenorrhoea. The gonads showed evidence of oestrogen and testosterone production and, in view of the risk of malignancy, a laparotomy was performed. A streak gonad was present on one side with a streak gonad containing discrete tumours on the other. The uterus and Fallopian tubes were present. Removal of the gonads and uterus and subsequent oestrogen replacement therapy have produced a satisfactory clinical result.