[Pseudohermaphroditism due to XY gonadal absence syndrome (author's transl)].

A case about a 16 year old individual is presented, in whom no internal genitals and vagina were found; no signs of breast development, axillary and pubic hair growth could be detected. The external genitals were hypoplastic. A sinus urogenitalis was present. The sex chromosome pattern was normal male (XY). On both sides of the pelvic wall rudiments of the Fallopian tube were observed by laparoscopy. Testosterone, estradiol, 17 alpha-OH-progesterone as well as androstendione-secretion could not be stimulated by HCG. Basal and LH-RH stimulated gonadotropins indicated a hypergonadotropic state. Height and bodyweight were in the range of a 12-year old boy, the bone age correlated with 14 years.