Background: Endometriosis is characteristically defined as the presence of endometrial
glands and stroma outside the uterine cavity. Despite an estimated prevalence of 10% in women, the
specific etiology, molecular, and clinical aspects of this disease remain poorly understood.
Objective: This review further elucidates current theories of the origins of endometriosis and additionally
provides a thorough outlook on clinical presentation, diagnosis and treatment modalities
Methods: Relevant studies describing the etiology, diagnosis and treatment of endometriosis were
comprehensively searched using PubMed, Cochrane Library, Web of Science, and Google Scholar
and critically reviewed.
Results: Classical theories of origin include retrograde menstruation, coelomic metaplasia, and
vascular and lymphatic dissemination, whilst neoclassical theories of endometriosis genesis include
the presence of altered immunity and subsistent aberrations in genetic expression in the eutopic
endometrium of women afflicted with this condition. Risk factors are manifold, with incessant menstruation
playing a substantial role. Other notable risk factors include Asian race and a family history
of endometriosis. Clinical presentation is variable, often times poorly correlating with severity
of disease, and while newer imaging modalities such as MRI are promising, histopathological confirmation
after surgical evaluation remains the gold standard for diagnosis. Optimal treatment is
largely dependent upon patient symptomology, and principal therapeutic strategies ought to vary
based upon the severity of pain and the presence of other comorbidities including infertility. Predominant
pain symptoms may be managed conservatively with NSAIDs or with hormonal modalities
including progestins, estroprogestins, gonadotropin releasing hormone (GnRH) analogs and
levonorgestrel intrauterine system (LNG-IUS). Aromatase inhibitors and GnRH antagonists may
offer a novel approach to management of persistent disease symptoms. Surgical exploration with
excision or ablation of endometriosis lesions is another effective approach for patients who are intolerant
of or do not desire hormonal intervention. Recently, the management paradigm for infertility-
dominant symptoms has been altered, with most experts now recommending avoidance of surgical
intervention and initiating timely fertility treatment with ovulation induction or in vitro fertilization.
Conclusions: Non-surgical diagnosis of this disease remains fraught with challenges. Treatment
modalities are manifold depending on pain-dominant or infertility-dominant symptomatology but are
oftentimes poorly efficacious. Ultimately, unearthing the root molecular mechanisms of this complex
disease will pave the way for the development of novel preventative and therapeutic measures.