Gonadal dysgenesis with mosaicism and a nonfluorescent Y chromosome: report of two cases with correlation of clinical, pathologic, and cytogenetic findings

Abstract

Two phenotypic girls with nonfluorescent Y chromosome mosaicism and histologic streak gonads were presented. H-Y antigen (a Y chromosome--determined antigen) was negative in both patients. Electron microscopic findings of "streak gonads" were presented for the first time. The authors recommend bilateral gonadectomy in patients with nonfluorescent Y chromosomes and correlation between the histologic findings and H-Y antigen status.