患有典型 21-羟化酶缺乏症 (21OHD) 的男性普遍存在生育能力低下的情况。我们试图描述其性腺功能的长期演变特征。对 27 名男性（其中 11 名具有睾丸肾上腺休息组织 [TART]）进行的回顾性纵向单中心研究，中位观察期 12 年，睾酮 (T)、11-氧化雄激素每个时间点的促性腺激素和抑制素 B 测量。每位患者的 T 浓度低于正常范围 (n.s.)，分别为 43.2%（无 TART）和 54.6%（TART）。考虑到体重指数、性激素结合球蛋白和年龄后，接受 TART 的男性表现出比未接受 TART 的男性 (11.9 ± 0.71nmol/L) 更高的 T (14.0 ± 0.80 nmol/L)。在观察期间，两组的 T 水平均上升，但接受 TART 的男性上升幅度更大（从 10.1 ± 1.1 升至 17.3 ± 1.9 nmol/L vs 10.3 ± 1.0 至 12.8 ± 1.9 nmol/L）；伴随着黄体生成激素的升高和氢化可的松当量剂量的减少（TART：从 38.1 ± 3.2 到 35.1 ± 1.8 mg/d；对比无 TART：28.8 ± 2.7 到 28.1 ± 1.6 mg/d），与任何肾上腺雄激素标志物无关控制。随着时间的推移，TART 较大的男性中抑制素 B 下降，而 TART 状态保持稳定。无论 TART 如何，21OHD 男性的 T 水平经常低于正常范围，但随着时间的推移变化不大。除了肾上腺雄激素控制外，还需要考虑超生理糖皮质激素剂量对性腺轴的抑制。虽然我们的结果并不支持定期筛查成人 TART 状态的变化，但应该对 TART 较大的男性进行监测支持细胞功能。© 作者 2024。由牛津大学出版社代表欧洲内分泌学会出版。

Subfertility is prevalent in men with classic 21-hydroxylase deficiency (21OHD). We sought to characterize the long-term evolution of their gonadal function.Retrospective longitudinal single-center study in 27 men (11 with testicular adrenal rest tissue [TART]), median observation period 12 years, testosterone (T), 11-oxygenated androgens, gonadotropins, and inhibin B measurement at each time point.T concentrations were below the normal range (n.s.) in 43.2% (no TART) and 54.6% (TART) per patient. After accounting for body mass index, sex hormone-binding globulin, and age, men with TART exhibited higher T (14.0 ± 0.80 nmol/L) than those without (11.9 ± 0.71 nmol/L). During the observation period, T levels rose in both groups but more in men with TART (from 10.1 ± 1.1 to 17.3 ± 1.9 nmol/L vs 10.3 ± 1.0 to 12.8 ± 1.9 nmol/L); this was accompanied by rising luteinizing hormone and diminishing hydrocortisone equivalent dosages (TART: from 38.1 ± 3.2 to 35.1 ± 1.8 mg/d; vs no TART: 28.8 ± 2.7 to 28.1 ± 1.6 mg/d) without correlation with any markers of adrenal androgen control. Inhibin B declined in men with large TART over time while TART status remained stable.T levels below the normal range are frequent in men with 21OHD, regardless of TART, but change little over time. Besides adrenal androgen control gonadal axis suppression from supraphysiological glucocorticoid dosages needs to be considered. While our results do not endorse regular screening for alterations in TART status among adults, Sertoli cell function should be monitored in men with large TART.© The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Endocrinology.