Leinonen P, Dunkel L, Perheentupa J, Vihko R
Acta Paediatr Scand. 1983 Mar;72(2):211-4. doi: 10.1111/j.1651-2227.1983.tb09699.x.
A 12.9 year-old girl, genotypically 46, XY, and considered to have a testicular feminization syndrome, developed signs of virilization and gynaecomastia. Very high androstenedione concentrations (10-fold the mean of the reference interval in boys) in relation to low normal testosterone in peripheral serum indicated a 17-ketosteroid reductase deficiency. In addition to androstenedione, the basal peripheral levels of 17-hydroxyprogesterone and estrone were increased, being 5- and 3-fold the mean of the reference interval, respectively, whereas pregnenolone, progesterone, dehydroepiandrosterone, 5 alpha-dihydrotestosterone and estradiol concentrations were within pubertal stage-appropriate reference intervals. The total spermatic vein serum steroid concentrations were about 5-fold the mean in old men, and androstenedione, estrone and dehydroepiandrosterone were particularly elevated, whereas estradiol was normal and testosterone subnormal by a factor of 1/8. In the testis tissue, the concentration of androstenedione was extremely high, whereas that of testosterone tended to be relatively low. Our patient was obviously producing testicular steroids at her maximal rate, because no response to hCG administration was observed. This state was associated with a high-normal circulating LH concentration. The concentration of testicular LH/hCG receptors was only one-fifth of that seen in old men, which may have resulted from receptor down-regulation associated with a high degree of stimulation.
一名12.9岁女孩，基因型为46，XY，被认为患有睾丸女性化综合征，出现了男性化和乳腺增生的体征。外周血清中雄烯二酮浓度极高（是男孩参考区间均值的10倍），而睾酮水平正常偏低，提示存在17 - 酮类固醇还原酶缺乏。除雄烯二酮外，外周基础水平的17 - 羟孕酮和雌酮也升高，分别是参考区间均值的5倍和3倍，而孕烯醇酮、孕酮、脱氢表雄酮、5α - 双氢睾酮和雌二醇浓度在青春期相应参考区间内。精索静脉血清总类固醇浓度约为老年男性均值的5倍，雄烯二酮、雌酮和脱氢表雄酮尤其升高，而雌二醇正常，睾酮低于正常水平八分之一。在睾丸组织中，雄烯二酮浓度极高，而睾酮浓度相对较低。我们的患者显然以最大速率分泌睾丸类固醇，因为未观察到对人绒毛膜促性腺激素（hCG）给药的反应。这种状态与循环中促黄体生成素（LH）浓度正常偏高有关。睾丸LH/hCG受体浓度仅为老年男性的五分之一，这可能是由于与高度刺激相关的受体下调所致。
