H-Y antigen expression in a case of mixed gonadal dysgenesis

H-Y antigen expression was studied on leukocytes and gonad-derived fibroblasts from a patient affected by mixed gonadal dysgenesis. Blood leukocytes and fibroblasts derived from the testis were typed H-Y positive, but the fibroblasts derived from the streak gonad were H-Y negative. Although the pati...

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Bibliographic Details
Published in:Human genetics 1981-01, Vol.57 (4), p.366-370
Main Authors: Moreira-Filho, C A, Amaral, A T, Otto, P G, Vianna-Morgante, A M, Otto, P A, Elejalde, B R
Format: Article
Language:English
Subjects:
Cells, Cultured
Chromosome Banding
Chromosomes, Human - ultrastructure
Epitopes
Female
Gonadal Dysgenesis - immunology
Gonadal Dysgenesis, Mixed - genetics
Gonadal Dysgenesis, Mixed - immunology
H-Y Antigen - immunology
Histocompatibility Testing
Humans
Karyotyping
Male
Mosaicism
Testis - immunology
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Summary:H-Y antigen expression was studied on leukocytes and gonad-derived fibroblasts from a patient affected by mixed gonadal dysgenesis. Blood leukocytes and fibroblasts derived from the testis were typed H-Y positive, but the fibroblasts derived from the streak gonad were H-Y negative. Although the patient's karyotype was a mosaic, 45,XO/46,X+mar, as detected in-peripheral blood cells and testis-derived fibroblasts, all the fibroblasts derived from the streak gonad were 45,XO. These data suggests that the marker chromosome was in fact a Y-derived chromosome. Moreover, they showed that, at the gonadal level, a minority of H-Y positive 46,X+mar cells were able to organize a testis. Nevertheless, a large number of XO cells probably did not receive the testicular forming influence of the H-Y antigen and of the other masculinizing factors.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00281686