Bosch-Banyeras J M, Audi L, Sarret E, Bau A, Bosch-Marcet J, Bernet M, Iriondo L, Cuatrecasas J M
Ann Genet. 1985;28(2):125-9.
A case of male pseudohermaphroditism with 47,XYY karyotype in blood and cutaneous fibroblasts is described. The plasma testosterone response to HCG stimulation was slightly below the normal range on two occasions suggesting a deficit of gonadal function. A study of the receptors for dihydrotestosterone in fibroblasts of genital and nongenital skin showed a normal concentration of receptors in genital skin; 5-alpha-reductase activity in fibroblasts of the genital skin was low, but the plasma relationship testosterone/dihydrotestosterone under HCG stimulation was normal. The diagnostic possibility of a complete testicular feminization syndrome with normal receptors for dihydrotestosterone is commented on.
本文描述了一例血液和皮肤成纤维细胞核型为47,XYY的男性假两性畸形病例。血浆睾酮对人绒毛膜促性腺激素（HCG）刺激的反应在两次检测中略低于正常范围，提示性腺功能不足。对生殖器和非生殖器皮肤成纤维细胞中双氢睾酮受体的研究表明，生殖器皮肤中受体浓度正常；生殖器皮肤成纤维细胞中的5-α还原酶活性较低，但在HCG刺激下血浆睾酮/双氢睾酮的关系正常。文中还讨论了双氢睾酮受体正常的完全性睾丸女性化综合征的诊断可能性。
