Madden J D, Walsh P C, MacDonald P C, Wilson J D
J Clin Endocrinol Metab. 1975 Oct;41(4):751-60. doi: 10.1210/jcem-41-4-751.
A 46 XY individual with male pseudohermaphroditism was investigated. The phenotype was distinctive in that the habitus was female in character, but partial fusion of the labioscrotal folds, testes, and male wolffian duct structures that terminated in the vagina were present. Müllerian structures were absent. At the expected time of puberty both feminization (breast development) and virilization (clitoral enlargement) took place. Studies of estrogen and androgen dynamics revealed plasma testosterone levels and production rates characteristic of normal men. Plasma estrogen levels and production rates were greater than those of normal men. Plasma gonadotropin levels were also high. These findings suggest that the fundamental defect in this patient is androgen resistance rather than defective androgen synthesis. Dihydrotestosterone formation from testosterone slices of epididymis and perineal skin was normal. The family history was uninformative. On endocrinologic, genetic, and phenotypic grounds the syndrome of incomplete testicular feminization can be separated from the complete form of testicular feminization and from familial incomplete male pseudohermaphroditism, Type 2. Additional studies will be required to determine whether this disorder is also distinct from the Type 1 form of familial incomplete male pseudohermaphromditism.
对一名患有男性假两性畸形的46 XY个体进行了研究。其表型独特，体型呈女性特征，但存在阴唇阴囊褶部分融合、睾丸以及终止于阴道的男性中肾管结构。苗勒管结构缺失。在预期的青春期时，出现了女性化（乳房发育）和男性化（阴蒂增大）现象。雌激素和雄激素动力学研究显示，血浆睾酮水平和生成率具有正常男性的特征。血浆雌激素水平和生成率高于正常男性。血浆促性腺激素水平也很高。这些发现表明，该患者的根本缺陷是雄激素抵抗而非雄激素合成缺陷。附睾和会阴皮肤的睾酮切片生成双氢睾酮正常。家族史无参考价值。基于内分泌学、遗传学和表型学依据，不完全性睾丸女性化综合征可与完全性睾丸女性化以及家族性不完全性男性假两性畸形2型相区分。还需要进一步研究以确定该病症是否也与家族性不完全性男性假两性畸形1型不同。
