[Familial testicular regression syndrome].
The rare syndrome of embryonic testicular regression or agonadism with XY karyotype is described in this paper in a sibship of 7 including 3 cases of regression at a earlier time (in three amenorrheic sisters and on case of tardive and incomplete regression in a brother with bilateral testicular hypotrophy. The antigen H-Y is present in the three sisters. The pathogenesis of this syndrome, compared with that of pure gonadal dysgenesis is discussed.
Naffah
J
J
D000293:Adolescent; D002648:Child; D003878:Dermatoglyphics; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D007861:Lebanon
Syndrome de régression testiculaire familial.