Histopathologic Study with Cytogenetic Correlation in 20 Cases of Gonadal Dysgenesis

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Abstract
A histopathologic study and cytogenetic correlation were carried out in 20 cases of gonadal dysgenesis with the female phenotype. Histologic studies disclosed follicles in two cases, gonadoblastomas in two (one bilateral and the other unilateral), and immature cords of germ cells in four. In the remainder there were gonadal streaks with ovarian stroma. There was good correlation between the presence of ova and mosaics involving X chromosomes, whereas XO cases had dysgenetic gonads without ova. The high incidence of hilus cells found may explain the virilization observed in some cases after puberty. Gonadal biopsy or removal of gonadal streaks is suggested for both diagnostic and prophylactic purposes, because of the virilizing potentiality of hilus cells and the increased incidence of gonadoblastomas, especially among carriers of normal or abnormal Y chromosomes.

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