Phansey S A, Satterfield R, Jorgenson R J, Salinas C F, Yoder F E, Mathur R S, Williamson H O
Am J Obstet Gynecol. 1980 Sep 15;138(2):133-8. doi: 10.1016/0002-9378(80)90023-x.
Three tall, phenotypic female siblings with XY gonadal dysgenesis were found to have short fourth metacarpal bones (bilateral in two and unilateral in the other). Clitoromegaly was observed in the two older siblings, without hirsutism. Bilateral streak gonads were found in all three. A gonadoblastoma was present in the left streak gonad of the youngest, and an adenomatoid tumor in the left streak gonad of the oldest, who was diabetic. Determination of androgens from peripheral and gonadal venous plasma revealed androgen secretion by the streak gonads. On the basis of clinical findings, familial tendency, and androgen secretion from the streak gonads in these patients, it is proposed that the XY gonadal dysgenesis represents a severe form of male pseudohermaphroditism.
发现三名患有XY性腺发育不全的身材高挑的表型女性同胞第四掌骨短小（两人双侧短小，另一人单侧短小）。两名年长的同胞出现阴蒂肥大，但无多毛症。三人双侧均为条索状性腺。最年轻者左侧条索状性腺存在性腺母细胞瘤，最年长者（患有糖尿病）左侧条索状性腺存在腺瘤样瘤。外周血和性腺静脉血浆雄激素测定显示条索状性腺分泌雄激素。基于这些患者的临床表现、家族倾向以及条索状性腺分泌雄激素的情况，提出XY性腺发育不全代表男性假两性畸形的一种严重形式。
