XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen.
Six patients with pure nonmosaic 46,XY gonadal dysgenesis (XY GD) and histocompatibility H-Y antigen titers in the normal male range (H-Y+) are presented. Clinical characteristics included a female phenotype, masculine skeletal characteristics, signs of virilization, and primary amenorrhea. All individuals had unambiguous female external genitalia, a hypoplastic uterus, bilateral tubes, and streak gonads. Histomorphologic evaluation of the gonads revealed various abortive testicular and ovarian elements capable of steroid production. Gonadal tumors were found in 4 patients (gonadoblastoma, dysgerminoma, granulosa cell tumor, myxofibroma). Plasma and urinary androgens and basal and stimulated gonadotropin levels were elevated prior to gonadectomy. Data show that the presence of the H-Y antigen per se does not guarantee normal testicular organogenesis. It is hypothesized that defective H-Y antigen binding to its gonadal receptors triggers aberrant testicular differentiation in 46,XY H-Y+ GD.
D000328:Adult; D000568:Amenorrhea / Q000473:pathology; D000728:Androgens / Q000097:blood / Q000652:urine; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006182:H-Y Antigen / Q000032:analysis*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010053:Ovary / Q000473:pathology; D013737:Testis / Q000473:pathology
D000728:Androgens; D006182:H-Y Antigen