[A case of an XX man with presence of H-Y antigen in his mother].
An adolescent of 17 years of age presented with delayed puberty and cryptorchidism underwent hormonal and cytogenetic investigation. The FSH and LH levels were raised and there was a significant response to LHRH. The karyotype was 46 XX. Cytogenetic studies showed no mosaic or translocation of the Y-chromosome. The HY antigen was present on the surface of the normal lymphocytes stimulated by phytohaemagglutinin or the pokeweed mitogen or the transformed lymphocytes. The mother also had the HY antigen at concentrations intermediary between those of normal men and women. These results suggest an autosomic location of the HY gene and of the determination of the gonadal orientation by the levels of HY antigen.
Caporal
R
R
Petit
P
P
Wauthier
J L
JL
Segrestaa
J M
JM
D000293:Adolescent; D003456:Cryptorchidism / Q000235:genetics*; D005260:Female; D006182:H-Y Antigen / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D011628:Puberty, Delayed / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D006182:H-Y Antigen
Un cas d'homme XX avec présence de l'antigène H-Y chez sa mère.