[Sexual ambiguity and non-fluorescent Y chromosome in 45,X/46,XY mosaicism]

The authors report 2 cases of mixed gonadal dysgenesis in a 45,X/46,XYnf mosaicism. The second case could also be considered as a true hermaphrodite at the time of examination. The discussion concerns the data (clinical, anatomical, histological and cytogenetic) which allowed for the diagnosis and treatment which relies overall on the configuration of the external genitalia.