Medina M, Kofman-Alfaro S, Pérez-Palacios G
Acta Endocrinol (Copenh). 1982 Apr;99(4):585-7. doi: 10.1530/acta.0.0990585.
Two unrelated 46,XX individuals with female phenotype and sexual infantilism were studied. Endocrine findings showed anoestrogenism and hypergonadotrophism with a normal pituitary response to LRH. Laparotomy disclosed ovarian absence with normal Mullerian derivatives and no gonadal streaks were found within the true pelvis or inguinal canals. This condition represents the 46,XX counterpart of the 46,XY gonadal absence syndrome. Whether the XX agonadism reported here is a different and distinctive entity or is a variant of the XX pure gonadal dysgenesis syndrome can not be ascertained at present.
对两名表型为女性且存在性幼稚症的46,XX个体进行了研究。内分泌检查结果显示雌激素缺乏和高促性腺激素血症，垂体对促性腺激素释放激素（LRH）反应正常。剖腹探查发现卵巢缺如，苗勒氏管衍生物正常，在真骨盆或腹股沟管内未发现性腺条索。这种情况代表了46,XY性腺缺如综合征的46,XX对应情况。目前尚无法确定此处报道的XX性腺缺失是一种不同且独特的实体，还是XX单纯性腺发育不全综合征的一种变体。
