Maes M, Lee P A, Jeffs R D, Sultan C, Migeon C J
Am J Dis Child. 1980 May;134(5):470-3. doi: 10.1001/archpedi.1980.02130170020008.
A family with partial androgen insensitivity syndrome exhibited considerable variation in phenotypic expression of their androgen resistance. One subject died at 2 1/2 years of age of a Wilms' tumor. In the two living members, one had a micropenis with otherwise normal genitalia, while the other had a small phallus, perineoscrotal hypospadias, bifid scrotum, and persistence of a vaginoutricular pouch. At puberty, plasma androgens and serum gonadotropins increased to normal or elevated values. However, despite adequate endogenous plasma testosterone levels and testosterone therapy, these patients showed poor virilization and were sterile. Studies of cultured sexual skin fibroblasts showed adequate 5 alpha-reductase activity and normal receptor affinity and capacity for dihydrotestosterone. An X-linked mode of inheritance is postulated, although autosomal dominance cannot be ruled out.
一个患有部分雄激素不敏感综合征的家族，其雄激素抵抗的表型表达存在相当大的差异。一名患者在2岁半时死于肾母细胞瘤。在两名在世成员中，一人有小阴茎但生殖器其他部分正常，而另一人有小阴茎、会阴阴囊型尿道下裂、阴囊分裂以及阴道室袋残留。青春期时，血浆雄激素和血清促性腺激素升高至正常或升高水平。然而，尽管内源性血浆睾酮水平充足且接受了睾酮治疗，但这些患者的男性化表现不佳且不育。对培养的性皮肤成纤维细胞的研究显示，5α-还原酶活性充足，二氢睾酮的受体亲和力和容量正常。推测为X连锁遗传模式，尽管不能排除常染色体显性遗传。
