Lo J C, Grumbach M M
Department of Medicine, University of California, San Francisco, USA.
Endocrinol Metab Clin North Am. 2001 Mar;30(1):207-29. doi: 10.1016/s0889-8529(08)70027-6.
Although low fertility rates have traditionally been reported among women with classic CAH and especially among women with the salt-wasting variant, more recent data suggest that fertility rates are significantly improved, largely owing to earlier treatment of CAH, improved compliance with therapy, and surgical advances in genital reconstruction. Furthermore, ovulation induction and assisted reproductive techniques are now available to women who remain infertile despite effective adrenal androgen suppression. Although the pregnancy experience in women with classic CAH remains limited, it is apparent that, once pregnant, these women have a high probability of successful outcome. Key issues should be emphasized in the management of CAH during gestation, including the need for assessing adrenal steroid replacement and adrenal androgen suppression, particularly in light of the interplay between maternal hyperandrogenism and the protective effect of placental aromatase activity, which provides a relatively large margin of safety for the female fetus. Maternal hormone levels should be evaluated in the context of laboratory-specific reference ranges for pregnancy. The infant should be examined for ambiguous genitalia and monitored for evidence of adrenal insufficiency. Although an affected female infant with classic CAH has not been reported as a pregnancy outcome of a mother with classic virilizing CAH, these concerns should be discussed during preconception counseling. Patients should also be aware of the importance of medication compliance and careful hormonal monitoring during the entire pregnancy. In most cases, successful gestational management requires the close coordination of care between the obstetrician and endocrinologist.
尽管传统上报道经典型先天性肾上腺皮质增生症（CAH）女性的生育率较低，尤其是失盐型变异的女性，但最近的数据表明生育率有显著提高，这主要归功于CAH的早期治疗、治疗依从性的改善以及生殖器重建手术的进展。此外，对于尽管肾上腺雄激素得到有效抑制但仍不孕的女性，现在可以采用促排卵和辅助生殖技术。虽然经典型CAH女性的妊娠经历仍然有限，但很明显，一旦怀孕，这些女性有很高的成功分娩几率。在妊娠期CAH的管理中应强调关键问题，包括评估肾上腺类固醇替代和肾上腺雄激素抑制的必要性，特别是考虑到母体高雄激素血症与胎盘芳香化酶活性的保护作用之间的相互作用，这为女性胎儿提供了相对较大的安全边际。应根据特定实验室的妊娠参考范围评估母体激素水平。应对婴儿进行生殖器模糊检查，并监测肾上腺功能不全的迹象。尽管尚未报道患有经典型CAH的母亲的妊娠结局为患有经典型CAH的女婴，但这些问题应在孕前咨询中进行讨论。患者还应意识到在整个孕期药物依从性和仔细的激素监测的重要性。在大多数情况下，成功的妊娠期管理需要产科医生和内分泌科医生密切协调护理。
