Sasagawa I, Terada T, Kazama T, Katayama T, Hasegawa M, Sakamoto H
Hinyokika Kiyo. 1985 May;31(5):849-56.
A 26-year-old man with the chief complaint of male infertility for 3 years was referred to our clinic. Physical examination of the patient revealed normal male habitus except for a small testis. His semen analysis showed no sperm. Levels of plasma LH and FSH were high compared with normal ones but that of plasma testosterone was within the normal range. Histological examination of his testis showed no spermatogenesis. Chromosome analysis with peripheral blood revealed 46, XX. H-Y antigen could be detected by in vitro cytotoxicity tests. By the above findings, the diagnosis of XX-male was made. Literature dealing with this disease is scanty. Only 18 cases of XX-male including our case were collected in Japan. The etiology and clinical features of this disease are discussed in the present report.
一名26岁男性因男性不育3年为主诉前来我院就诊。对该患者进行体格检查发现，除睾丸较小外，其男性体型正常。精液分析显示无精子。与正常水平相比，患者血浆促黄体生成素（LH）和促卵泡生成素（FSH）水平较高，但血浆睾酮水平在正常范围内。睾丸组织学检查显示无精子发生。外周血染色体分析显示为46, XX。通过体外细胞毒性试验可检测到H-Y抗原。根据上述检查结果，诊断为XX男性综合征。关于该疾病的文献较少。在日本，包括我们的病例在内，仅收集到18例XX男性综合征病例。本报告将对该疾病的病因和临床特征进行讨论。
