Moltz L, Schwartz U, Pickartz H, Hammerstein J, Wolf U
Obstet Gynecol. 1981 Jul;58(1):17-25.
Six patients with pure nonmosaic 46,XY gonadal dysgenesis (XY GD) and histocompatibility H-Y antigen titers in the normal male range (H-Y+) are presented. Clinical characteristics included a female phenotype, masculine skeletal characteristics, signs of virilization, and primary amenorrhea. All individuals had unambiguous female external genitalia, a hypoplastic uterus, bilateral tubes, and streak gonads. Histomorphologic evaluation of the gonads revealed various abortive testicular and ovarian elements capable of steroid production. Gonadal tumors were found in 4 patients (gonadoblastoma, dysgerminoma, granulosa cell tumor, myxofibroma). Plasma and urinary androgens and basal and stimulated gonadotropin levels were elevated prior to gonadectomy. Data show that the presence of the H-Y antigen per se does not guarantee normal testicular organogenesis. It is hypothesized that defective H-Y antigen binding to its gonadal receptors triggers aberrant testicular differentiation in 46,XY H-Y+ GD.
本文报告了6例患有纯合非镶嵌型46,XY性腺发育不全（XY GD）且组织相容性H-Y抗原滴度处于正常男性范围（H-Y+）的患者。临床特征包括女性表型、男性化骨骼特征、男性化体征和原发性闭经。所有个体均具有明确的女性外生殖器、发育不全的子宫、双侧输卵管和条索状性腺。性腺的组织形态学评估显示存在各种能够产生类固醇的发育不全的睾丸和卵巢成分。4例患者发现了性腺肿瘤（性腺母细胞瘤、无性细胞瘤、颗粒细胞瘤、黏液纤维瘤）。在性腺切除术前，血浆和尿雄激素以及基础和刺激后的促性腺激素水平均升高。数据表明，H-Y抗原的存在本身并不能保证正常的睾丸器官发生。据推测，在46,XY H-Y+ GD中，有缺陷的H-Y抗原与其性腺受体结合会触发异常的睾丸分化。
