Savage M O, Chaussain J L, Evain D, Roger M, Canlorbe P, Job J C
Clin Endocrinol (Oxf). 1978 Mar;8(3):219-31. doi: 10.1111/j.1365-2265.1978.tb01498.x.
The clinical and endocrine features of fifty cases of male pseudohermaphroditism and XY karyotype aged from 6 months to 20 years have been studied. Thirty-two subjects were pre-pubertal and eighteen, of whom ten developed gynaecomastia, were pubertal. A definite aetiology was established in 12%. 4% had deficient testosterone biosynthesis and 8% mixed gonadal dysgenesis. In the remaining 88% an aetiology of androgen unresponsiveness at the target areas is suggested. Hormonal investigations in these subjects showed that before puberty basal plasma testosterone and oestradiol were slightly but significantly elevated, whereas testosterone response to stimulation with human chorionic gonadotrophin was significantly diminished. In the pubertal subjects basal plasma testosterone, oestradiol, serum binding capacity of testosterone-oestradiol binding globulin and basal plasma LH were significantly elevated. These hormonal features in pubertal or post-pubertal male pseudohermaphrodites appear to be characteristic of androgen unresponsiveness. The presence in addition of elevated basal plasma testosterone and oestradiol in the pre-pubertal subjects suggest that some of these findings may be presented from early childhood.
对50例年龄在6个月至20岁之间、核型为XY的男性假两性畸形患者的临床和内分泌特征进行了研究。32例为青春期前患者，18例为青春期患者，其中10例出现了男性乳房发育。12%的患者病因明确。4%的患者睾酮生物合成不足，8%的患者为混合性性腺发育不全。其余88%的患者提示靶区雄激素无反应性病因。对这些患者的激素研究表明，青春期前基础血浆睾酮和雌二醇略有但显著升高，而人绒毛膜促性腺激素刺激后睾酮反应显著降低。青春期患者基础血浆睾酮、雌二醇、睾酮-雌二醇结合球蛋白的血清结合能力和基础血浆促黄体生成素显著升高。青春期或青春期后男性假两性畸形患者的这些激素特征似乎是雄激素无反应性的特征。青春期前患者基础血浆睾酮和雌二醇升高表明，其中一些发现可能在儿童早期就已出现。
