Unfer Vittorio, Lepore Elisa, Forte Gianpiero, Hernández Marín Imela, Wdowiak Artur, Pkhaladze Lali
UniCamillus-Saint Camillus International University of Health Sciences, Rome, Italy.
The Experts Group On Inositol in Basic and Clinical Research and On PCOS (EGOI-PCOS), Rome, Italy.
Arch Gynecol Obstet. 2025 Jan;311(1):25-32. doi: 10.1007/s00404-024-07897-1. Epub 2025 Jan 7.
Polycystic Ovary Syndrome (PCOS) and Adrenal hyperplasia (CAH) are two pathologic conditions sharing several clinical features (hirsutism, acne, polycystic ovary morphology, metabolic alterations, ovulatory dysfunctions) and especially hyperandrogenism as a common clinical hallmark. Therefore, making a differential diagnosis of the two conditions still remains a great medical challenge.
In particular, the comparison discussed in this review referred to non-classical form of adrenal hyperplasia (NCAH), which regards the adult population, and the Endocrine Metabolic Syndrome (EMS), following the new set of PCOS diagnostic criteria proposed by the Experts Group on Inositol and Clinical Research, and on PCOS (EGOI-PCOS). To support this review, a literature search was conducted using PubMed, Google Scholar and Web of Science, supplemented by articles known to the authors. Keywords included: polycystic ovary syndrome, non-classical adrenal hyperplasia, hyperandrogenism, and 17-Hydroxyprogesterone.
Considering the different pathophysiology of the two conditions, the recommended strategy to differentiate diagnosis is testing the blood values of 17-hydroxyprogesterone (17-OHP) in fertile aged women with suspicious hyperandrogenism. Basal values of 17-OHP higher than 2 ng/mL likely indicate NCAH, while values lower than 2 ng/mL exclude the diagnosis of NCAH; in case of borderline values stimulation test with adrenocorticotropic hormone may eventually confirm the diagnosis.
This review contributes to make the differential diagnosis between hyperandrogenic PCOS and NCAH clearer, thus also aiming to achieve tailored therapeutic approaches for patients with hyperandrogenism.
多囊卵巢综合征(PCOS)和肾上腺增生(CAH)是两种具有若干共同临床特征(多毛、痤疮、多囊卵巢形态、代谢改变、排卵功能障碍)的病理状况,尤其是高雄激素血症是其共同的临床标志。因此,对这两种病症进行鉴别诊断仍然是一项重大的医学挑战。
具体而言,本综述中所讨论的比较涉及针对成年人群的非经典型肾上腺增生(NCAH),以及遵循肌醇与临床研究及PCOS专家组(EGOI - PCOS)提出的PCOS新诊断标准的内分泌代谢综合征(EMS)。为支持本综述,使用PubMed、谷歌学术和科学网进行了文献检索,并补充了作者已知的文章。关键词包括:多囊卵巢综合征、非经典型肾上腺增生、高雄激素血症和17 - 羟孕酮。
考虑到这两种病症不同的病理生理学,鉴别诊断的推荐策略是对有可疑高雄激素血症的育龄妇女检测17 - 羟孕酮(17 - OHP)的血液值。17 - OHP基础值高于2 ng/mL可能提示NCAH,而低于2 ng/mL可排除NCAH的诊断;对于临界值情况,促肾上腺皮质激素刺激试验最终可能确诊。
本综述有助于更清晰地鉴别高雄激素性PCOS和NCAH,从而也旨在为高雄激素血症患者实现量身定制的治疗方法。