Familial Syndrome of Streak Gonads and Normal Male Karyotype in Five Phenotypic Females

Abstract

Five related phenotypic females, representing three different sibships in the same family, were found to have pure gonadal dysgenesis, which was confirmed by the finding of streak gonads at laparotomy in each case. Cytogenetic studies in a number of different tissues showed a normal male (XY) karyotype in all affected members, none of whom had signs of Turner's syndrome. Hormone studies carried out in two of the five cases indicated negligible estrogen excretion and no gonadal response to the stimulus of human chorionic gonadotrophin. No evidence of testicular differentiation was seen histologically in any of the streaks examined. Transmission of this disorder of testicular development by genes on the X chromosome or an autosome, as described in other genetic disorders of male development, is the most likely mode of inheritance.