Villanueva A L, Rebar R W
Int J Gynaecol Obstet. 1985 Dec;23(6):449-54. doi: 10.1016/0020-7292(85)90067-0.
A case of 21-hydroxylase deficiency diagnosed and first treated at the age of 3 years is presented. Although pubertal development was delayed, full reproductive function was attained, with menses occurring at 14-33-day intervals. Infertility evaluation at age 20 revealed elevated 17-hydroxyprogesterone (17Po) and androgen concentrations and reduced luteal phase progesterone levels consistent with inadequate luteal function. This was corrected with additional corticosteroid replacement. Normal pregnancy and delivery followed.
本文报告一例21-羟化酶缺乏症患者,3岁时确诊并首次接受治疗。尽管青春期发育延迟,但仍获得了完全的生殖功能,月经周期为14 - 33天。20岁时的不孕评估显示17-羟孕酮(17Po)和雄激素浓度升高,黄体期孕酮水平降低,符合黄体功能不全。通过额外补充皮质类固醇得以纠正。随后成功妊娠并分娩。