What are the key points to focus on for a quiz in endogynecology?

High-Yield Endogynecology Quiz Points

Endometriosis Definition and Pathophysiology

Endometriosis is defined as an inflammatory disease process characterized by endometrial-like tissue outside the uterus, associated with pelvic pain and/or infertility. 1, 2

• Affects approximately 10% of women during reproductive years (176 million women worldwide) with an economic burden of $69.4 billion annually 2, 3
• Deep endometriosis (DE) is specifically defined as lesions extending >5 mm under the peritoneal surface OR involving/distorting bowel, bladder, ureter, or vagina 1, 2
• The disease is estrogen-dependent and progesterone-resistant with a proliferative nature 1
• Multifactorial etiology includes genetic factors with epigenetic influences, environmental exposures, and chronic inflammation 1, 2
• 50% of patients with endometriosis experience infertility 2

Clinical Presentation

• Pelvic pain is the most common symptom, manifesting as dysmenorrhea, dysuria, and period-related gastrointestinal/urinary symptoms 2, 3
• Presentation is highly variable: ranges from completely asymptomatic to debilitating symptoms that significantly impact daily activities 2, 4
• Associated with multisite pain, fatigue, and other comorbidities 4
• Diagnostic delay is common after symptom onset 4

Classification Systems - Critical Limitations

The r-ASRM classification system is the longest established method but has severe limitations that must be recognized. 1

r-ASRM Classification Problems:

• Does NOT adequately describe deep endometriosis 1
• Poor correlation with fertility outcomes 1
• Very poor correlation with pain symptoms and quality of life 1
• Poor prognostic information 1
• Poor predictive accuracy for treatment outcomes 1
• Still used due to longevity, widespread clinical use, and incorporation into other systems 1

Enzian Classification:

• Should be employed WITH r-ASRM when deep endometriosis is present to give complete operative description 1
• Also has poor correlation with symptoms and infertility 1
• Limited prognostic value for symptom course, quality of life, and infertility 1

Diagnostic Approaches

Diagnosis in primary care is clinical, though laparoscopy with biopsy remains the definitive method. 3

• Transvaginal ultrasound (TVUS) has pooled sensitivity of 82.5% and specificity of 84.6% 5
• Expanded protocol TVUS can identify and map deep endometriosis 2
• MRI is preferred if deep infiltrating endometriosis is suspected 3
• Several gynecologic organizations recommend empiric therapy without immediate surgical diagnosis 3

Management Strategy

First-Line Treatment:

Combined hormonal contraceptives with or without NSAIDs are first-line options with tolerable adverse effect profiles 3

Second-Line Treatment:

• GnRH receptor agonists with add-back therapy 3
• GnRH receptor antagonists 3
• Danazol 3

Third-Line Treatment:

• Aromatase inhibitors reserved for severe disease 3

Surgical Indications:

Refer to gynecology for surgical management when: 3

• Empiric therapy is ineffective
• Immediate diagnosis and treatment are necessary
• Patient desires pregnancy

Surgical Principles:

• Goal is excision or ablation of ALL visible disease to minimize recurrence risk and need for repeat surgeries 6
• Conservative excision with a rim of fibrosis can be left without safety margins since surrounding fibrosis belongs to the body with limited endometriosis infiltration 7
• For deep endometriosis: discoid excision or short bowel resections 7
• For cystic ovarian endometriosis: superficial destruction if complete should be sufficient 7

Adenomyosis - Key Distinctions

Adenomyosis is characterized by islands of endometrial tissue surrounded by hypertrophic smooth muscle cells within the myometrium. 8

• TVUS sensitivity 82.5%, specificity 84.6% for diagnosis 5
• MRI can display endometrium even when adenomyosis obscures it on ultrasound 5
• KRAS mutations map to both intracavitary endometrial tissue and proximally located adenomyotic samples, supporting the invagination theory 8
• Driver mutations found in uterine fibroids are ABSENT in adenomyosis 8
• KRAS mutations limited to endometrial-type epithelial cells, also observed in endometriosis, indicating similar disease process 8
• Presents with pelvic pain, excessive uterine bleeding, anemia, and infertility 8

Endometrial Cancer - Essential Facts

More than 90% of endometrial cancers occur in women >50 years with median age at diagnosis of 63 years 1

• 4% occur in women <40 years old, many desiring fertility preservation 1
• 80% diagnosed in stage I with 5-year survival >95% 1
• 5-year survival drops to 68% with regional spread, 17% with distant disease 1
• Type I (80-90%): endometrioid adenocarcinoma with PTEN, KRAS, CTNNB1, PIK3CA alterations and MLH1 promoter hypermethylation 1
• Type II (10-20%): serous, clear-cell, undifferentiated carcinomas, carcinosarcoma with TP53 mutations 1
• 25% of high-grade endometrioid carcinomas express mutated TP53 and behave like serous carcinomas 1

Pathogenesis Insights from Next-Generation Sequencing

• KRAS mutations are recurring driver mutations in adenomyosis and endometriosis epithelial cells 8
• Identical KRAS mutations shared between endometrium, adjacent adenomyosis, and co-occurring endometriosis suggest oligoclonal origin 8
• KRAS mutations stimulate pathways increasing cell survival, proliferation, and are associated with progesterone resistance 8
• Adenomyosis likely originates from basalis endometrium with KRAS mutations becoming entrapped in myometrium after events disrupting the endometrial-myometrial junction 8