McDONOUGH P G, Tho P T, Byrd J R
Fertil Steril. 1977 Mar;28(3):251-2. doi: 10.1016/s0015-0282(16)42434-9.
This case report describes twin sisters, one with rudimentary streak gonads and the other with normal ovarian function. Both siblings had normal 46, XX karyotypes, and zygosity testing indicated that they were identical twins. Discordance of identical twins for 46, XX pure gonadal dysgenesis suggests that environmental factors may be a causative factor in some of the karyotypically normal 46,XX forms of gonadal dysgenesis.
本病例报告描述了一对双胞胎姐妹，其中一人有发育不全的条索状性腺，另一人卵巢功能正常。两姐妹的核型均为正常的46,XX，卵型测试表明她们是同卵双胞胎。同卵双胞胎在46,XX单纯性腺发育不全方面存在差异，这表明环境因素可能是某些核型正常的46,XX型性腺发育不全的致病因素。
