Pérez-Palacios G, Scaglia H E, Kofman-Alfaro S, Saavedra D, Ochoa S, Larraza O, Pérez A E
Acta Endocrinol (Copenh). 1981 Sep;98(1):148-55. doi: 10.1530/acta.0.0980148.
An inherited form of incomplete male pseudohermaphroditism was studied in two post-pubertal and one pre-pubertal sibling. All patients presented a 46XY karyotype infantile female external genitalia, lack of breast development and sexual hair. Persistently elevated serum levels of gonadotrophins with normal pituitary responsiveness to LRH were found. Serum 17-OH progesterone, androstenedione, and testosterone levels were extremely low before and after gonadal stimulation with hCG. Laparotomy revealed absence of Wolffian and Mullerian derivatives. Testes were small and cryptorchidic. Microscopic and ultrastructural examination revealed seminiferous tubules with absence of spermatogenesis and normal Sertoli cells. The interstitial spaces were mainly occupied by poorly differentiated cells although in the post-pubertal patients there were small and randomly distributed nodules of Leydig cells without crystaloids. Incubation of testicular tissue from one post-pubertal patient with [14C]acetate showed lack of 14C-incorporation into appropriate steroid carriers. These data were interpreted as demonstrating that gonadotrophin resistance was the underlying abnormality of this syndrome, representing the human counter part of the "vet" pseudohermaphroditic rat.
对两名青春期后和一名青春期前的同胞进行了遗传性不完全男性假两性畸形的研究。所有患者核型均为46XY，外生殖器呈幼稚女性型，乳房未发育，无阴毛。发现促性腺激素血清水平持续升高，而垂体对促性腺激素释放激素（LRH）反应正常。用绒毛膜促性腺激素（hCG）刺激性腺前后，血清17 - 羟孕酮、雄烯二酮和睾酮水平极低。剖腹探查显示无中肾管和苗勒管衍生物。睾丸小且隐睾。显微镜和超微结构检查显示生精小管无精子发生，支持细胞正常。间质主要由分化不良的细胞占据，不过在青春期后患者中，有小的、随机分布的无晶体的睾丸间质细胞结节。对一名青春期后患者的睾丸组织用[14C]醋酸盐进行孵育，结果显示缺乏14C掺入合适的类固醇载体。这些数据被解释为表明促性腺激素抵抗是该综合征的潜在异常，代表了“兽医”假两性畸形大鼠在人类中的对应情况。
