Department of Medicine IV, LMU University Hospital, LMU Munich, Munich, Germany.
Clin Endocrinol (Oxf). 2024 Oct;101(4):359-370. doi: 10.1111/cen.15131.
Management of patients with congenital adrenal hyperplasia (CAH) poses challenges during pregnancy and prenatal stages, impacting fertility differently in men and women. Women with CAH experience menstrual irregularities due to androgen and glucocorticoid precursor interference with endometrial development and ovulation. Genital surgeries for virilization and urogenital anomalies further impact fertility and sexual function, leading to reduced heterosexual relationships among affected women. Fertility rates vary, with a lower prevalence of motherhood, primarily among those with classic CAH, necessitating optimized hormonal therapy for conception. Monitoring optimal disease control during pregnancy poses challenges due to hormonal fluctuations. Men with CAH often experience hypogonadotrophic hypogonadism and complications like testicular adrenal rest tissue, impacting fertility. Regular monitoring and intensified glucocorticoid therapy may restore spermatogenesis. Genetic counselling is vital to comprehend transmission risks and prenatal implications. Prenatal dexamethasone treatment in affected female fetuses prevents virilization but raises ethical and safety concerns, necessitating careful consideration and further research. The international "PREDICT" study aims to establish safer and more effective prenatal therapy in CAH, evaluating dosage, safety, and long-term effects.
先天性肾上腺皮质增生症（CAH）患者在妊娠和产前阶段的管理带来挑战，对男性和女性的生育能力产生不同影响。CAH 女性由于雄激素和糖皮质激素前体干扰子宫内膜发育和排卵，出现月经不规律。为了男性化和泌尿生殖系统异常进行的生殖器手术进一步影响生育能力和性功能，导致受影响女性异性恋关系减少。生育能力各不相同，患病率较低，主要发生在经典 CAH 患者中，需要优化激素治疗以实现妊娠。由于激素波动，监测妊娠期间疾病的最佳控制存在挑战。CAH 男性常患有促性腺激素低下性性腺功能减退症和睾丸肾上腺残余组织等并发症，影响生育能力。定期监测和强化糖皮质激素治疗可能恢复精子发生。遗传咨询对于理解遗传风险和产前影响至关重要。对患有 CAH 的女性胎儿进行产前地塞米松治疗可预防男性化，但存在伦理和安全问题，需要仔细考虑和进一步研究。国际“PREDICT”研究旨在确定 CAH 更安全有效的产前治疗方法，评估剂量、安全性和长期效果。
