True hermaphroditism: a new case with complex mosaicism.
True hermaphroditism is a very rare disorder of human sexual differentiation. In the medical literature, more than 450 cases are described, and about 250 true hermaphrodites have been subjected to chromosome studies. A 21-year-old "man" was examined because of genital and phenotypic abnormalities: clinical, surgical and laboratory investigations showed a true hermaphroditism, with a quadruple mosaicism 45,X/46,XX/46,XY/47,XXY. We believe that this is the first case in which this peculiar type of multiple mosaicism has been documented.
Borghi
A
A
Endocrinology Service, USL 10/D, Florence, Italy.
Papi
L
L
Bigozzi
U
U
Biagioni
M
M
Taddei
G L
GL
Natali
A
A
Maiello
M
M
D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000473:pathology; D013737:Testis / Q000473:pathology