[New aspects of diagnosing and treating pure gonadal dysgenesis 46XY and 46XX]

Among 67 women with pure gonadal dysgenesis, karyotype 46XY was found in 46 and karyotype 46XX in 21 (26.3% of all intersexual subjects). Karyotype 46XY was either of pure type or mosaicism 45,X/46,XY (10.9%). Primary amenorrhea, underdevelopment of mammary glands and lack or poor development of pubic hair were the main complaints of the patients. In gonadal dysgenesis 46XY mammary glands were developed in 21.8% and pubic hair in 26% suggesting the presence within the gonads of the hormonally active tumor or the state after hormonal treatment. The patients with gonadal dysgenesis 46XX had lowered levels of estrogens and elevated levels of FSH and LH. Karyotype 46XY was not associated with evident changes in hormonal levels. Estrogens were both low and normal, and FSH was elevated (21.5 + 16.6 ug/ml) or normal (3.2-5.0 ng/ml). Total testosterone values were normal or slightly elevated. Such situation can be explained by the presence in some patients of tumors secreting either estrogens or androgens. Taeniform character of gonads was observed by ultrasonography whenever the presence of gonadal tumor was excluded. Histology of specimens taken from gonads or tumors demonstrated the presence of dysgerminoma or gonadoblastoma type of malignancy in 53.1%, foci or proliferation of the Leydig cells in 31.3% and typical morphology of residual gonads without germinal cells only in 12.5%. The differentiation between pure gonadal dysgenesis 46XX and primary ovarian insufficiency is required whenever no characteristic pattern emerges from clinical, hormonal, cytogenetic or ultrasonographic examination. Diagnosis of pure gonadal dysgenesis 46XX can be finally confirmed by the absence of gonocytes in the residual gonad. Besides of removal of gonads or tumors by surgery, the treatment of patients with 46XY karyotype consists in cyclic administration of estrogens and progestagens restoring menstruation and bringing development of secondary sex attributes.