Pierson M, Vidailhet M, Wuilbercq L, Wendremaire-Palandri Y, Combescure B
Arch Fr Pediatr. 1983 Dec;40(10):767-73.
Ten cases of boys without testis are presented. Clinical and anatomical patterns of the disease are analysed. Total absence of testicular tissue is proven by the lack of plasma testosterone response to HCG stimulation and by cautious surgical investigation. Artificial virilization by prolonged androgen administration associated with silastic prothesis implantation is the only possibility of treatment. Anorchism does not represent a form of gonadal dysgenesis or sexual ambiguity since external genitalia are always non ambiguous, chromosomal constitution is XY without any structural anomaly of Y and H-Y histocompatibility antigen is present. Absence or destruction of the testis are caused by different mechanisms, according to the data obtained by individual case studies. The most likely is that foetal testes developped normally are destroyed in utero or in the perinatal period or even soon after birth. The most frequent mechanism with a genetic predisposition, seems to be bilateral pedicle twisting.
本文报告了10例无睾症男孩的病例。分析了该疾病的临床和解剖学模式。血浆睾酮对人绒毛膜促性腺激素（HCG）刺激无反应以及谨慎的手术探查证实睾丸组织完全缺失。长期给予雄激素并植入硅橡胶假体进行人工男性化是唯一的治疗方法。无睾症并不代表性腺发育不全或性征模糊的一种形式，因为外生殖器总是明确的，染色体组成是XY，Y染色体无任何结构异常，且存在H-Y组织相容性抗原。根据个别病例研究获得的数据，睾丸的缺失或破坏是由不同机制引起的。最有可能的是，正常发育的胎儿睾丸在子宫内、围产期甚至出生后不久被破坏。最常见的具有遗传易感性的机制似乎是双侧精索扭转。
