Turner B, Fechner P Y, Fuqua J S, Marcantonio S M, Perlman E J, Vordermark J S, Berkovitz G D
Department of Urology, Texas Tech University Health Sciences Center, Lubbock, USA.
Am J Med Genet. 1995 Jul 3;57(3):440-3. doi: 10.1002/ajmg.1320570315.
We have evaluated 3 individuals with a rare form of 46,XX sex reversal. All of them had ambiguous external genitalia and mixed wolffian and müllerian structures, indicating both Leydig cell and Sertoli cell dysfunction, similar to that of patients with true hermaphroditism. However, gonadal tissue was not ovotesticular but testicular with varying degrees of dysgenesis. SRY sequences were absent in genomic DNA from peripheral leukocytes in all 3 subjects. Y centromere sequences were also absent, indicating that testis development did not occur because of a low level mosaicism of Y bearing cells. The subjects in this report demonstrate that there is a continuum in the extent of testis determination in SRY-negative 46,XX sex reversal, ranging from nearly normal to minimal testicular development.
我们评估了3例患有罕见形式46,XX性反转的个体。他们均有外生殖器模糊以及沃尔夫管和苗勒管结构混合的情况，这表明存在莱迪希细胞和支持细胞功能障碍，类似于真两性畸形患者。然而，性腺组织并非卵睾，而是发育程度各异的发育不全睾丸。所有3名受试者外周血白细胞的基因组DNA中均不存在SRY序列。Y染色体着丝粒序列也不存在，这表明睾丸发育并非由于含Y细胞的低水平嵌合体所致。本报告中的受试者表明，在SRY阴性的46,XX性反转中，睾丸决定程度存在一个连续谱，范围从接近正常到最小程度的睾丸发育。
