Chatelain D, Ricard J, Ghighi C, Colombat M, Leclercq F, Cordonnier C, Pouzac M, Sevestre H, Gontier M F
Service d'anatomie pathologique, CHU Nord, Amiens.
Ann Pathol. 2000 Dec;20(6):605-8.
We report the case of a 14-year-old girl with a testicular feminization syndrome. The inguinal cryptorchid testis contained plurifocal hamartomas ranging from 0.5 to 1 cm. They were composed of tubules lined by cylindrical Sertoli cells immunoreactive for alpha-inhibin and p30/32(MIC2). The stroma contained few Leydig cells. Ultrastructural study showed tubules with immature Sertoli cells. The testicular feminization syndrome is caused by mutations of the androgen receptor gene. Patients with male genotype 46, XY have a female morphotype with external sexual organs without ambiguity. They have neither uterus nor ovary but two cryptorchid testis in which sex-cord stromal tumors can develop. Their malignant transformation is rare but requires preventive bilateral orchidectomy.
我们报告了一例患有睾丸女性化综合征的14岁女孩的病例。腹股沟隐睾内含有多灶性错构瘤，大小从0.5厘米至1厘米不等。它们由被对α-抑制素和p30/32（MIC2）呈免疫反应性的柱状支持细胞衬里的小管组成。间质中含有少量的睾丸间质细胞。超微结构研究显示小管中有未成熟的支持细胞。睾丸女性化综合征是由雄激素受体基因突变引起的。具有46，XY男性基因型的患者具有女性形态型，外生殖器无异常。他们既没有子宫也没有卵巢，但有两个隐睾，其中可能发生性索间质肿瘤。它们的恶性转化很少见，但需要进行预防性双侧睾丸切除术。
