Abstract
The gonadal function in four children with XO/XY or XX/XY mosaicism was studied. All were raised as females. Three patients, one prepubertal, were surgically explored and testicular tissue was noted in all three. Two of three patients of adolescent age had elevated plasma testosterone values. The third adolescent patient had a normal basal excretion of urinary testosterone glucuronide which increased 10-fold following stimulation with human chorionic gonadotropin. Prophylactic gonadectomy in this syndrome is recommended because of the increased incidence of malignant change in dysgenetic gonads. Temporization of castration appears to be unwarranted because if the gonads are to function at all, they are more likely to produce androgens.
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