Schaison G, Sitruk L R
Horm Metab Res. 1976 Jul;8(4):307-10. doi: 10.1055/s-0028-1093642.
A new case of testicular 17 ketosteroid reductase (17 KSR) deficiency without gynecomastia was investigated. Delta4 androstenedione (15.6 ng/ml) was ten times the normal range, unchanged after dexamethasone administration. In contrast, plasma testosterone (4.1 ng/ml) was in the low normal male range and plasma dehydroepiandrosterone (4.2 ng/ml) was normal. Plasma luteinizing hormone and follicle-stimulating hormone were increased (162 and 470 ng/ml LER 907 respectively). After adrenal suppression and human chorionic gonadotropin stimulation, the increase of delta4 androstenedione was in contrast with the inertia of testosterone. In spermatic venous plasma delta4 androstenedione level (293.2 ng/ml) was very high and testosterone level (7.1 ng/ml) a hundred times below the normal mean. Plasma estrone (124 pg/ml) was increased and estradiol (22 pg/ml) was normal. In spermatic venous plasma estrone was elevated and estradiol very low (1380 and 32 pg/ml respectively). It is the third case of 17 KSR deficiency where the lack of E2 increase explains the absence of gynecomastia.
对一例无男性乳房发育的睾丸17 - 酮类固醇还原酶（17 KSR）缺乏症的新病例进行了研究。δ4雄烯二酮（15.6 ng/ml）是正常范围的10倍，地塞米松给药后无变化。相比之下，血浆睾酮（4.1 ng/ml）处于正常男性低限范围，血浆脱氢表雄酮（4.2 ng/ml）正常。血浆黄体生成素和卵泡刺激素升高（分别为162和470 ng/ml LER 907）。肾上腺抑制和人绒毛膜促性腺激素刺激后，δ4雄烯二酮升高而睾酮无反应。精索静脉血浆中δ4雄烯二酮水平（293.2 ng/ml）非常高，而睾酮水平（7.1 ng/ml）比正常均值低百倍。血浆雌酮（124 pg/ml）升高，雌二醇（22 pg/ml）正常。精索静脉血浆中雌酮升高，雌二醇极低（分别为1380和32 pg/ml）。这是第3例17 KSR缺乏症病例，其中雌二醇不增加解释了男性乳房发育未出现的原因。
