Altered hypothalamic-pituitary-testicular function in incomplete testicular feminization syndrome.

An 18-year-old 46 XY patient with the syndrome of incomplete testicular feminization was investigated. The clinical phenotypic features were distinctive and typical of the 4 46 XY cases previously reported. The findings of elevated plasma T4 with evidence of incomplete development of female secondary sex characteristics suggest partial end organ insensitivity to the androgen at the target tissues. This possibility is substantiated by the high plasma LH level, presumably the consequence of the relative inability of the hypothalamic-pituitary unit to respond to testosterone in the feedback regulation of LH secretion. It is therefore suggested that, compared to normal males, the patient had an altered hypothalamic-pituitary-testicular function.