Zäh W, Windeck R, Tharandt L, Pascu F, Kracht J, Reinwein D
Endokrinologie. 1979;73(3):307-17.
The syndrome of pure gonadal dysgenesis (PGD) cannot always easily be distinguished from other disorders of gonadal development. Relations are evident with Turner's syndrome, females with hypoplastic ovaries, male pseudohermaphroditism, mixed gonadal dysgenesis and the vanishing testes syndrome. The case is reported of a 40 year old female with primary amenorrhea, alopecia, eunuchoid features, XY karyotype with normal breast development and sexual hair after estrogen therapy. On laparotomy streak ovaries were found at ovarian site. Pathohistological examination revealed on the left side wolffian duct remnants such as ductuli deferentes and epididymis besides sparse Leydig-(hilus-)cells and on the right side only a rudimentary fallopian tube with subendothelial accumulation of hyperplastic Leydig-(hilus-)cells. Serum-testosterone elevation above the normal female range (630 ng/dl) persisted following gonadectomy (151 ng/dl). Ectopic Leydig-(hilus-)cells were regarded responsible for the continuing testosterone production. The present case lies on borderline between PGD and mixed gonadal dysgenesis because remnants of wolffian duct derivatives suggest unilateral fetal testicular activity; classification as PGD however was justified in purely female body features and lacking evidence of testicular tissue.
单纯性腺发育不全综合征（PGD）并非总能轻易与其他性腺发育障碍相区分。它与特纳综合征、卵巢发育不全的女性、男性假两性畸形、混合性性腺发育不全以及睾丸消失综合征明显相关。本文报道了一例40岁原发性闭经女性，有脱发、类无睾体型，核型为XY，雌激素治疗后乳房发育及阴毛正常。剖腹探查发现卵巢部位为条索状卵巢。病理组织学检查显示，左侧除了有稀疏的莱迪希（门）细胞外，还有输精管和附睾等中肾管残余；右侧仅有一条发育不全的输卵管，伴有增生的莱迪希（门）细胞在内皮下聚集。性腺切除术后，血清睾酮水平高于正常女性范围（630 ng/dl）仍持续存在（151 ng/dl）。异位的莱迪希（门）细胞被认为是睾酮持续产生的原因。本病例处于PGD和混合性性腺发育不全的边界，因为中肾管衍生物的残余提示单侧胎儿睾丸活动；然而，鉴于其完全女性化的身体特征且缺乏睾丸组织的证据，将其归类为PGD是合理的。
