Zakharia G, Krauss D J
Department of Veterans Affairs Medical Center, State University of New York, Syracuse.
Urology. 1990 Oct;36(4):322-4. doi: 10.1016/0090-4295(90)80238-i.
Men who appear normal and live a normal life, may have a 46,XX karyotype and present with the typical features of infertility and end organ (testicular) failure. They are azoospermic and their small testicles show specific patterns on light and electron microscopy. Recent advances in genetics (1) favor the "X-Y interchange" theory to explain this phenomenon; (2) hypothesize about the roles of the H-Y antigen and testis determining factor (TDF) in determining "maleness"; and (3) allow mapping of the relative positions of H-Y and TDF loci on the Y chromosome.
外表正常且过着正常生活的男性，可能具有46,XX核型，并表现出不育和终末器官（睾丸）功能衰竭的典型特征。他们无精子症，其小睾丸在光学显微镜和电子显微镜下呈现出特定模式。遗传学的最新进展：（1）支持“X-Y互换”理论来解释这一现象；（2）推测H-Y抗原和睾丸决定因子（TDF）在决定“男性特征”中的作用；（3）允许绘制Y染色体上H-Y和TDF基因座的相对位置图。
