Shorakae Soulmaz, Teede Helena
Monash Health, Clayton, Victoria, Australia.
BMJ Case Rep. 2013 Aug 5;2013:bcr2013010299. doi: 10.1136/bcr-2013-010299.
A 32-year-old woman with classical congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency presented with infertility. She was treated with different steroid replacement regimens together with fludrocortisone. The aim of this case report is to discuss fertility barriers in women with classical CAH, and emphasise the risks and benefits of available steroid treatment options. Clinical considerations covered include preconception health and fertility planning, optimising fertility through suppression of excess hormone production, reducing fetal androgen exposure in utero and limiting maternal and fetal side effects of therapy and limiting chances of CAH in the baby. In this case suppression of androgen and progesterone levels was challenging but eventually was achieved and resulted in a spontaneous pregnancy. However, she miscarried in the first trimester, and fetal biopsy revealed a complete hydatiform mole. She is advised not to conceive while she is under investigation to determine the extent of the disease.
一名32岁患有继发于21-羟化酶缺乏症的典型先天性肾上腺皮质增生症(CAH)的女性因不孕前来就诊。她接受了不同的类固醇替代方案以及氟氢可的松治疗。本病例报告的目的是讨论典型CAH女性的生育障碍,并强调现有类固醇治疗方案的风险和益处。涵盖的临床考虑因素包括孕前健康和生育计划、通过抑制过量激素产生来优化生育能力、减少子宫内胎儿雄激素暴露、限制治疗对母体和胎儿的副作用以及降低婴儿患CAH的几率。在本病例中,抑制雄激素和孕酮水平具有挑战性,但最终得以实现并导致自然受孕。然而,她在孕早期流产,胎儿活检显示为完全性葡萄胎。建议她在接受疾病程度检查期间不要受孕。