[Asymmetric mixed gonadal dysgenesis (author's transl)].
We would like to report a girl, 11 7/12 years old, with the typical signs of an asymmetric mixed gonadal dysgenesis (amgd). The external genitalia were ambiguous, the inner genital organs contained a dysgenetic testis on the right side an ovarian "streak" on the left. At laparatomy follopian tubes were found bilaterally. On the right side the microscopic specimen showed an epididymis. There was an unicornuate malformation of the uterus. The karyotype, first examined 1969 in the age of a few month, showed chromosomal mosaicism, 45 XO/46 XX. In 1980 this problem was reevaluated, because now the HY-antigen-determination was available, this was uniformally found to be positive in our patient. Now the new karyotype with special methods was 45 XO, 46 X dic (y)/47 XY + dic (y). This karyotype was, to ower knowledge, never seen before in amgd. Particular emphasis was payed to the discussion of the pathogenesis of this karyotype and the amgd in general. We would like to consider this intersexual malformation as a prototype of a chromosomal induced disturbance of somatic sexual differentiation.
D002648:Child; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D012730:Sex Chromosomes
Asymmetrische gemischte Gonadendysgenesie mit besonderem gonosomalem Mosaik.