{"id":73,"title":"Female infertility in nonclassic congenital adrenal hyperplasia: beyond hyperandrogenism","title_zh":"非经典型先天性肾上腺皮质增生女性不孕：高雄激素血症之外的机制与综合管理","url":"https://pubmed.ncbi.nlm.nih.gov/42983558","doi":"10.1186/s12958-026-01603-3","pmid":"42983558","journal":"Reprod Biol Endocrinol","kind":"paper","lang":"en","published_at":"2026-08-08T00:00:00+00:00","fetched_at":"2026-11-08T03:43:53+00:00","authors":["Wang S","Li X","Zhang N","Zhang X","Wu X"],"primary_topic":"repro-endo","topics":[{"slug":"repro-endo","score":9.0,"hits":["hyperandrogenism","ovulation","ovulatory","pcos","polycystic ovary","progesterone"]},{"slug":"art-clinical","score":5.0,"hits":["assisted reproductive","infertility"]},{"slug":"oocyte","score":4.0,"hits":["follicular","folliculogenesis","ovarian","ovary"]},{"slug":"early-pregnancy","score":2.0,"hits":["early pregnancy","pregnancy outcomes"]},{"slug":"endometrium","score":1.0,"hits":["endometrial receptivity"]}],"topic_score":9.0,"preference_score":0.0,"preference_labels":[],"llm_score":74.0,"final_score":74.0,"score_dims":{"novelty":62,"rigor":60,"impact":72,"relevance":88,"translation":78},"recommend_reason":"系统梳理NCCAH相关不孕的多种经雄激素路径机制，并给出从诊断到ART与产科随访的整合流程，对生殖内分泌与ART临床鉴别PCOS、优化促排卵与移植策略有直接参考价值；但属叙述性综述，无原始数据，证据强度受限。","keywords":["非经典型先天性肾上腺皮质增生","女性不孕","17-羟孕酮","子宫内膜容受性","辅助生殖技术","多囊卵巢综合征鉴别"],"selected":1,"story_id":452,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-art","source_name":"PubMed · 辅助生殖临床","source_tier":1,"mention_count":5,"has_interpretation":false,"journal_key":"rbe","journal_tier":"standard","journal_if":4.2,"is_mock":false,"summary_zh":"本文为综述，聚焦非经典型先天性肾上腺皮质增生（NCCAH，多为CYP21A2部分缺陷）这一常被低估的女性不孕病因。文章指出，患者常因高雄激素血症、月经紊乱与排卵障碍而被误诊为多囊卵巢综合征；其生殖失败不仅源于雄激素过多干扰卵泡发生，还与卵泡期孕酮过早升高、下丘脑-垂体-卵巢轴紊乱、子宫内膜容受性受损及早孕流产风险增加等多因素病理生理相关。诊断需结合基础及ACTH兴奋后17-OHP测定、全面内分泌评估与基因检测；治疗应在糖皮质激素靶向治疗、促排卵、辅助生殖技术、产科监护与遗传咨询基础上形成多学科整合策略。","summary":"Nonclassic congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive endocrinopathy, primarily caused by partial 21-hydroxylase (CYP21A2) deficiency, and represents a significant but often underrecognized cause of female infertility. Clinically, affected women frequently present with hyperandrogenism, menstrual irregularities, and ovulatory dysfunction, which can lead to misdiagnosis as polycystic ovary syndrome (PCOS). Traditionally, reproductive failure in NCCAH has been attributed solely to androgen excess disrupting folliculogenesis. However, recent evidence reveals a multifactorial pathophysiology. Beyond hyperandrogenism, premature follicular-phase progesterone elevation, disruption of the hypothalamic-pituitary-ovarian (HPO) axis, impaired endometrial receptivity, and increased risk of early pregnancy loss collectively contribute to infertility. Accurate diagnosis requires a structured approach, including basal and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxyprogesterone (17-OHP) measurement, comprehensive endocrine profiling, and genetic testing. Therefore, fertility optimization should extend beyond isolated androgen suppression. This review critically summarizes current knowledge of NCCAH-related infertility mechanisms and proposes an integrated, multidisciplinary management strategy-encompassing targeted targeted glucocorticoid (GC) therapy, ovulation induction, assisted reproductive technology (ART), careful obstetric monitoring, and genetic counseling-to improve fertility and pregnancy outcomes in this patient population.","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}