Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease.
A 16 1/2-year-old girl was studied because of ileitis, lack of pubertal development, and primary amenorrhea. She had a 46,XY chromosome constitution in lymphocytes in fibroblasts without structural defects of X or Y. She was H-Y antigen negative. This observation supports the concept of causal heterogeneity of XY gonadal dysgenesis (Swyer syndrome). Two groups have been established: (1) H-Y antigen-positive forms, which are more common, possibly due to gonad-specific receptor defects (total failure or reduced receptor affinity), (2) H-Y antigen-negative forms possibly due to mutation in the H-Y generating system, either of the structural gene (presumably autosomal) or of a controlling gene (on the sex chromosomes). The H-Y antigen status may be of value in determining which patients are at risk for gonadoblastoma or dysgerminoma.
D000293:Adolescent; D003424:Crohn Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology
D006182:H-Y Antigen