H-Y antigen in XO/X,iso(X) mosaic Turner syndrome.
Androgen excess, found occasionally in gonadal dysgenesis, may be associated with hilus cell hyperplasia within the gonadal streaks. This report describes a phenotypic female with Turner syndrome, clitoromegaly, hilus cell hyperplasia, and a gonadal-to-peripheral venous step-down gradient for testosterone, androstenedione, and estradiol. Cytogenetic analysis of cells from peripheral blood and both streak gonads revealed a mosaic karyotype, 45,X/46,X,iso(X). The isochromosome was a nonfused dicentric type (pter leads to q2105 leads to pter). Despite absence of the Y chromosome, serologic analysis revealed the presence of H-Y antigen, thereby suggesting occult Y chromosomal function in the patient's gonads.
D000293:Adolescent; D000735:Androstenedione / Q000097:blood; D000818:Animals; D004958:Estradiol / Q000097:blood; D005260:Female; D006182:H-Y Antigen / Q000032:analysis*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007621:Karyotyping; D008297:Male; D051379:Mice; D009030:Mosaicism; D010053:Ovary / Q000166:cytology; D010641:Phenotype; D012730:Sex Chromosomes; D013739:Testosterone / Q000097:blood; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome / Q000276:immunology
D006182:H-Y Antigen; D013739:Testosterone; D000735:Androstenedione; D004958:Estradiol; D006854:Hydrocortisone