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The ovary of a 46,XY female, the karyotype of which was 93% 46,XY, 6% 45,X. The ovary was SRY positive. The female menstruated regularly and had two pregnancies. This woman gave birth to a female with 46,XY pure gonadal dysgenesis in whom the Y was transmitted from the father. The molecular analysis in the mother and daughter revealed coding sequences of nine genes known to be involved in male sexual development (SOX9, SF1, DMRT1, DMRT3, TSPYL, BPESC1, DHH, WNT4, SRY, DAX1) that are identical to the normal reference sequences. This is the first report of a fertile 46,XY human female, though it has been reported in the mouse and horse. From the article by Dumic et al., in this issue, pages 182–189.