de Grouchy J, Gompel A, Salomon-Bernard Y, Kuttenn F, Yaneva H, Paniel J B, Le Merrer M, Roubin M, Doussau de Bazignan M, Turleau C
Ann Genet. 1985;28(3):154-60.
The embryonic testicular regression syndrome associated with severe mental retardation is reported in three 46,XY sibs each of whom has a 46,XY chromosome complement. A fourth sib, a sister, also is severely retarded mentally; her chromosome complement is 46,XX. The 46,XY individuals, who were raised as females, presented varying degrees of genital ambiguity, indicating that their gonadal activities had been arrested at different times during embryogenesis. No trace of gonadal tissue could be found in either patient. The coincidence of the embryonic testicular regression syndrome and severe mental retardation in the same sibship is discussed.
本文报道了三例与严重智力发育迟缓相关的胚胎睾丸退化综合征患者，他们均为46,XY核型的同胞。第四名同胞是他们的姐妹，染色体核型为46,XX，也存在严重的智力发育迟缓。这三名46,XY个体自幼被当作女性抚养，表现出不同程度的生殖器模糊不清，表明其性腺活动在胚胎发育的不同时期被阻断。两名患者均未发现性腺组织痕迹。本文还讨论了同一家庭中胚胎睾丸退化综合征与严重智力发育迟缓的巧合情况。
