先天性肾上腺皮质增生症的产前和孕期管理

IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Clinical Endocrinology Pub Date : 2024-10-10 DOI:10.1111/cen.15131
Hanna Franziska Nowotny, Lea Tschaidse, Matthias K. Auer, Nicole Reisch
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引用次数: 0

摘要

先天性肾上腺皮质增生症(CAH)患者的管理在妊娠期和产前阶段面临挑战,对男性和女性的生育能力产生不同的影响。由于雄激素和糖皮质激素前体干扰了子宫内膜的发育和排卵,CAH 女性患者会出现月经不调。因男性化和泌尿生殖器异常而进行的生殖器手术会进一步影响生育能力和性功能,导致受影响女性的异性关系减少。生育率各不相同,主要是典型 CAH 患者的生育率较低,因此需要优化激素治疗才能受孕。由于荷尔蒙的波动,在怀孕期间监测疾病的最佳控制情况是一项挑战。患有 CAH 的男性通常会出现性腺机能减退和睾丸肾上腺休息组织等并发症,从而影响生育能力。定期监测和加强糖皮质激素治疗可恢复精子生成。遗传咨询对于了解传播风险和产前影响至关重要。对受影响的女性胎儿进行产前地塞米松治疗可防止男性化,但会引起伦理和安全方面的问题,因此需要慎重考虑和进一步研究。国际 "PREDICT "研究旨在为CAH建立更安全、更有效的产前疗法,评估剂量、安全性和长期效果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Prenatal and Pregnancy Management of Congenital Adrenal Hyperplasia

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.

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来源期刊
Clinical Endocrinology
Clinical Endocrinology 医学-内分泌学与代谢
CiteScore
6.40
自引率
3.10%
发文量
192
审稿时长
1 months
期刊介绍: Clinical Endocrinology publishes papers and reviews which focus on the clinical aspects of endocrinology, including the clinical application of molecular endocrinology. It does not publish papers relating directly to diabetes care and clinical management. It features reviews, original papers, commentaries, correspondence and Clinical Questions. Clinical Endocrinology is essential reading not only for those engaged in endocrinological research but also for those involved primarily in clinical practice.
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