Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness

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Abstract
An inherited form of incomplete male pseudohermaphroditism was studied in 2 post-pubertal and 1 pre-pubertal sibling. All patients presented a 46XY karyotype, infantile female external genitalia, lack of breast development and sexual hair. Persistently elevated serum levels of gonadotropins with normal pituitary responsiveness to LHRH were found. Serum 17-OH progesterone, androstenedione and testosterone levels were extremely low before and after gonadal stimulation with human chorionic gonadotropin. Laparotomy revealed absence of Wolffian and Mullerian derivatives. Testes were small and cryptorchidic. Microscopic and ultrastructural examination revealed seminiferous tubules with absence of spermatogenesis and normal Sertoli cells. The interstitial spaces were mainly occupied by poorly differentiated cells although in the post-pubertal patients there were small and randomly distributed nodules of Leydig cells without crystaloids. Incubation of testicular tissue from 1 post-pubertal patient with [14C]acetate showed lack of 14C-incorporation into appropriate steroid carriers. Gonadotropin resistance apparently was the underlying abnormality of this syndrome, representing the human counterpart of the vet pseudohermaphroditic rat.

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