BACKGROUND Adenomyosis is a benign uterine disorder where endometrial glands and stroma are pathologically demonstrated within the uterine myometrium. The pathogenesis involves sex steroid hormone abnormalities, inflammation, fibrosis and neuroangiogenesis, even though the proposed mechanisms are not fully understood. For many years, adenomyosis has been considered a histopathological diagnosis made after hysterectomy, classically performed in perimenopausal women with abnormal uterine bleeding (AUB) or pelvic pain. Until recently, adenomyosis was a clinically neglected condition. Nowadays, adenomyosis may also be diagnosed by non-invasive techniques, because of imaging advancements. Thus, a new epidemiological scenario has developed with an increasing number of women of reproductive age with ultrasound (US) or magnetic resonance imaging (MRI) diagnosis of adenomyosis. This condition is associated with a wide variety of symptoms (pelvic pain, AUB and/or infertility), but it is also recognised that some women are asymptomatic. Furthermore, adenomyosis often coexists with other gynecological comorbidities, such as endometriosis and uterine fibroids, and the diagnostic criteria are still not universally agreed. Therefore, the diagnostic process for adenomyosis is challenging. OBJECTIVE AND RATIONALE We present a comprehensive review on the diagnostic criteria of adenomyosis, including clinical signs and symptoms, ultrasound and MRI features and histopathological aspects of adenomyotic lesions. We also briefly summarise the relevant theories on adenomyosis pathogenesis, in order to provide the pathophysiological background to understand the different phenotypes and clinical presentation. The review highlights the controversies of multiple existing criteria, summarising all of the available evidences on adenomyosis diagnosis. The review aims also to underline the future perspective for diagnosis, stressing the importance of an integrated clinical and imaging approach, in order to identify this gynecological disease, so often underdiagnosed. SEARCH METHODS PubMed and Google Scholar were searched for all original and review articles related to diagnosis of adenomyosis published in English until October 2018. OUTCOMES The challenge in diagnosing adenomyosis starts with the controversies in the available pathogenic theories. The difficulties in understanding the way the disease arises and progresses have an impact also on the specific diagnostic criteria to use for a correct identification. Currently, the diagnosis of adenomyosis may be performed by non-invasive methods and the clinical signs and symptoms, despite their heterogeneity and poor specificity, may guide the clinician for a suspicion of the disease. Imaging techniques, including 2D and 3D US as well as MRI, allow the proper identification of the different phenotypes of adenomyosis (diffuse and/or focal). From a histological point of view, if the diagnosis of diffuse adenomyosis is straightforward, in more limited disease, the diagnosis has poor inter-observer reproducibility, leading to extreme variations in the prevalence of disease. Therefore, an integrated non-invasive diagnostic approach, considering risk factors profile, clinical symptoms, clinical examination and imaging, is proposed to adequately identify and characterise adenomyosis. WIDER IMPLICATIONS The development of the diagnostic tools allows the physicians to make an accurate diagnosis of adenomyosis by means of non-invasive techniques, representing a major breakthrough, in the light of the clinical consequences of this disease. Furthermore, this technological improvement will open a new epidemiological scenario, identifying different groups of women, with a dissimilar clinical and/or imaging phenotypes of adenomyosis, and this should be object of future research.

中文翻译：

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诊断子宫腺肌病：一种综合的临床和影像学方法。

背景技术子宫腺肌病是一种良性子宫疾病，其中子宫肌层内有病理证实子宫内膜腺体和间质。发病机制涉及性类固醇激素异常，炎症，纤维化和神经血管生成，即使所提出的机制尚不完全清楚。多年来，子宫腺肌病一直被认为是子宫切除术后的组织病理学诊断，通常是在子宫异常出血（AUB）或骨盆疼痛的绝经后妇女中进行的。直到最近，子宫腺肌病仍是临床上被忽视的疾病。如今，由于影像学的进步，子宫腺肌症也可以通过非侵入性技术进行诊断。从而，随着超声（US）或磁共振成像（MRI）诊断为子宫腺肌病的育龄妇女的数量不断增加，新的流行病学情况已经发展起来。这种情况与各种各样的症状（骨盆疼痛，AUB和/或不孕症）有关，但也有人认为有些妇女是无症状的。此外，子宫腺肌病常常与其他妇科合并症共存，例如子宫内膜异位症和子宫肌瘤，并且诊断标准仍未得到普遍认可。因此，子宫腺肌病的诊断过程具有挑战性。目的和理由我们对子宫腺肌病的诊断标准进行全面综述，包括子宫腺肌病病变的临床体征和症状，超声和MRI特征以及组织病理学方面。我们还简要总结了有关子宫腺肌病发病机理的相关理论，以提供病理生理背景，以了解不同的表型和临床表现。该综述突出了多种现有标准的争议，总结了有关子宫腺肌病诊断的所有可用证据。审查的目的还在于强调未来的诊断前景，强调综合临床和影像学方法的重要性，以便识别这种经常被漏诊的妇科疾病。搜索方法搜索PubMed和Google Scholar，搜索直到2018年10月以英文出版的与子宫腺肌病诊断相关的所有原创文章和评论文章。结果子宫腺肌病的诊断挑战始于可用病原学理论的争议。难以理解疾病的发生和发展方式也会影响用于正确识别的特定诊断标准。目前，子宫腺肌症的诊断可以通过非侵入性方法进行，尽管其体征异质性和特异性差，但临床体征和症状仍可指导临床医生对该病的怀疑。包括2D和3D US以及MRI在内的成像技术可以正确识别腺肌病的不同表型（弥漫性和/或局灶性）。从组织学的角度来看，如果弥漫性子宫腺肌病的诊断是直接的，则在更有限的疾病中，该诊断的观察者间可重复性很差，从而导致疾病患病率的极端变化。因此，采用集成的非侵入性诊断方法，考虑到危险因素概况，临床症状，临床检查和影像学，建议充分识别和表征子宫腺肌病。进一步的意义根据该疾病的临床后果，诊断工具的发展使医生可以通过非侵入性技术对子宫腺肌病进行准确诊断，这是一项重大突破。此外，这项技术进步将打开一种新的流行病学场景，识别具有不同临床和/或影像表现的子宫腺肌病的不同妇女群体，这应该是未来研究的目标。进一步的意义根据该疾病的临床后果，诊断工具的发展使医生可以通过非侵入性技术对子宫腺肌病进行准确诊断，这是一项重大突破。此外，这项技术进步将打开一种新的流行病学场景，识别具有不同临床和/或影像表现的子宫腺肌病的不同妇女群体，这应该是未来研究的目标。进一步的意义根据该疾病的临床后果，诊断工具的发展使医生可以通过非侵入性技术对子宫腺肌病进行准确诊断，这是一项重大突破。此外，这项技术进步将打开一种新的流行病学场景，识别具有不同临床和/或影像表现的子宫腺肌病的不同妇女群体，这应该是未来研究的目标。