Genetic, developmental and hormonal aspects of gonadal dysgenesis and sex inversion in man.

Abstract

ABNORMALITIES of sex in man, as seen in clinics and extensively described in the medical literature, show a great variety of manifestations which have long defied attempts at rational classification. However, the discovery by Barr (1) of a sexual dimorphism in the chromatin of resting cell nuclei now permits a clear separation of the cases involving sex inversion from those that merely present forms of under- or over-development of sex organs (2). In the present discussion we shall speak of sex inversion and of contrary sex development whenever the appearance of gonads or somatic organs obviously conflicts with the chromosomal or constitutional sex. Complete sex reversal including the capacity for reproduction may occur spontaneously and can be produced experimentally in fishes and amphibians (3, 4) but, so far, is not known in any of the higher vertebrates. Yet, the observation of full spermatogenesis in an individual with female sex chromatin (Fig. 5) indicates that, even in man, functional sex reversal...