Pseudohermaphroditism due to XY gonadal absence syndrome.

A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release of gonadotrophins was assessed by measuring plasma LH and FSH in plasma samples obtained at 20-minute intervals for a 4-hour period. Endocrine gonadal function was evaluated by a stimulation test with human chorionic gonadotrophin for 3 days. The results showed: a) persistently raised plasma levels of both LH and FSH; b) a pulsatile pattern of release of both gonadotrophins and a normal pituitary response to the synthetic hypothalamic decapeptide; and c) extremely low levels of circulating testosterone and oestradiol with a lack of response to the HCG stimulus. A careful exploratory laparotomy revealed absence of uterus, Fallopian tubes, the Mullerian portion of the vagina, and gonads. No Wolffian derivatives were found. A dissociation of testosterone and the so-called Jost substance effects during early sexual development may explain the findings in this unusual abnormality. The term 'XY gonadal absence syndrome' including five types of variants to designate this condition is proposed.