Chemke J, Shani A, Lancet M, Czernobilsky B
J Med Genet. 1977 Oct;14(5):375-8. doi: 10.1136/jmg.14.5.375.
The gonads of an elderly patient with a typical testicular feminisation syndrome are described. The unusual histological features consisted of total absence of testicular tubular structures or remnants thereof and distinct proliferation of smooth muscle bundles. In addition, there was fibrous proliferation, areas of ovarian stroma, and rare Reinke crystalloids within Leydig cells. The complete tubular absence may have been the result of fibrous replacement related to patient's advanced age, while the muscular proliferation may have been of hamartomatous nature. Thus, it seems that in elderly patients with testicular feminisation syndrome, the histological appearance of the gonads may vary considerably from that in younger individuals, and in such cases the correct diagnosis should be based mainly on clinical and cytogenetic findings.
描述了一名患有典型睾丸女性化综合征老年患者的性腺情况。异常的组织学特征包括完全没有睾丸管状结构或其残余物,以及平滑肌束明显增生。此外,存在纤维组织增生、卵巢基质区域,以及在Leydig细胞内罕见的Reinke晶体。完全没有管状结构可能是与患者高龄相关的纤维组织替代的结果,而肌肉增生可能具有错构瘤性质。因此,似乎在患有睾丸女性化综合征的老年患者中,性腺的组织学表现可能与年轻个体有很大差异,在这种情况下,正确的诊断应主要基于临床和细胞遗传学检查结果。