The testis in patients with abnormalities of sex differentiation. Histology and endocrine function.

Abstract

ABSTRACT Testicular function was studied in 18 patients with abnormalities of sexual differentiation. Fourteen patients were prepubertal and four postpubertal. Plasma testosterone was determined before and after 5000 IU HCG administered daily during 5' days. Of the fourteen prepubertal patients, the two true hermaphrodites and the patient with asymmetrical gonadal differentiation showed a poor response to gonadotrophin stimulation. This could be explained by the small amount of active testicular tissue or its coexistence with ovarian and rudimentary gonadal tissue which might exert some influence on the endocrine function of the testis. In the group of eight patients with male pseudo-hermaphroditism and ambiguous external genitalia, the response to HCG showed a large variation. The three patients with small testes had lowest values i. e. 210, 198 and 192 ng/100 ml. The remaining five patients showed normal values ranging between 360 and 720 ng/100 ml. The ambiguous external genitalia of these patients could be explained as being due to a diminished androgen target organ sensitivity limited to the external genitalia. The three prepubertal patients with male pseudo-hermaphroditism and female external genitalia showed a marked increase in plasma testosterone with HCG ranging between 598 and 1100 ng/100 ml. The four pubertal cases also had high values in basal conditions, between 920 and 1870, which increased even more after gonadotrophin stimulation, in one case from 1382 to 2264 ng/100 ml. This hypersensitivity to exogenous HCG, even in infancy, correlates with the elevated basal values observed in adult patients with otherwise female external genitalia and androgen insensitivity. Finally, the HCG stimulation test could be useful for the demonstration of testicular tissue in prepubertal patient with abnormalities of sexual differentiation, although it cannot be used as a prognosis of masculinization or feminization at puberty.