[46 XX karyotype men (author's transl)].
85 cases of this syndrom have been published since the original case in 1964. The main clinical symptoms are those of Klinefelter's disease from which it differs by the caryotype only. Azoospermie is the rule. 3 mechanisms can be implicated: Mosaic 46 XX/47 XY with secondary loss of Y chromosome; Translocation of a part of Y chromosome upon an autosome or Y chromosome; Autosomal mutant gene acting upon the masculinizing site of X chromosome and inducing the primitive development of the testis as the short arm and proximal part of the long arm of Y chromosome normally do. These mechanisms perhaps are distinct origins of a syndrom which clinic alone cannot dissociate.
D012734:Disorders of Sex Development / Q000209:etiology; D006801:Humans; D007006:Hypogonadism / Q000209:etiology* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009154:Mutation; D012729:Sex Chromosome Aberrations / Q000150:complications / Q000235:genetics*; D012730:Sex Chromosomes; D014178:Translocation, Genetic
Les hommes à caryotype 46, XX.