Butler M G, Walzak M P, Sanger W G, Todd C T
J Urol. 1983 Jul;130(1):154-6. doi: 10.1016/s0022-5347(17)51010-1.
We report on an infertile male patient with the predominant 46XX female karyotype. A testicular biopsy revealed widely separated testicular tubules, absence of sperm formation and large numbers of Leydig cells. Chromosome studies, including measurements of the X chromosomes, showed a significant difference between the lengths of the short arm of the 2 X chromosomes. This information lends support for an X-Y chromosome interchange as the etiology of this syndrome. The clinical features of this rare syndrome and other theories of etiology of XX male subjects are discussed.
我们报告了一名主要核型为46XX的不育男性患者。睾丸活检显示睾丸小管广泛分离，无精子形成，且有大量睾丸间质细胞。染色体研究，包括对X染色体的测量，显示两条X染色体短臂长度存在显著差异。这一信息支持了X-Y染色体互换是该综合征病因的观点。本文讨论了这种罕见综合征的临床特征以及XX男性患者病因的其他理论。
