Borghi A, Papi L, Bigozzi U, Biagioni M, Taddei G L, Natali A, Maiello M
Endocrinology Service, USL 10/D, Florence, Italy.
Genet Couns. 1990;1(1):81-8.
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.
真两性畸形是一种非常罕见的人类性分化障碍。在医学文献中，已描述了450多例病例，约250例真两性畸形患者接受了染色体研究。一名21岁的“男性”因生殖器和表型异常接受检查：临床、手术和实验室检查显示为真两性畸形，伴有45,X/46,XX/46,XY/47,XXY四重嵌合体。我们认为这是首例记录有这种特殊类型多重嵌合体的病例。
