WNT4 (rs7521902 and rs16826658) polymorphism and its association with endometriosis - A systematic review and meta-analysis.

IMPORTANCE: This systematic review supports the involvement of the WNT4 gene in the pathophysiology of endometriosis. OBJECTIVE: To conduct a systematic review and meta-analysis on WNT4 rs7521902 and rs16826658 polymorphism associated with endometriosis based on multi-ethnic case-control studies. DATA SOURCES: Comprehensive searching was performed using Medline, Embase, and Google Scholar. STUDY SELECTION AND SYNTHESIS: Keywords used for searching using Boolean operators are endometriosis, WNT4, and polymorphism. This review followed PRISMA guidelines, and meta-analysis was conducted in STATA18. MAIN OUTCOMES: WNT4 polymorphisms identified in this review were rs7521902, rs16826658, rs2235529, rs3820282, and rs12037376. RESULTS: A total of 250 studies were identified through databases; 10 were eligible for this review, and eight were included in the meta-analysis. Two WNT4 polymorphisms (rs7521902 and rs16826658) were analysed in the meta-analysis. A lower risk of odds in having endometriosis was apparent in the CC genotype of rs7521092 polymorphism with a pooled OR of 0.86 (0.76, 0.99). Most articles were high-quality case-control studies and were at low risk of bias. CONCLUSION: This study highlighted the association of WNT4 polymorphisms (rs7521092) and endometriosis across Latin America, Europe, and Asian populations. RELEVANCE: Following the completion of the Human Genome Project, many genetic aspects of endometriosis were revealed, including the discovery of single nucleotide polymorphisms (SNPs). However, due to a lack of replications and conflicting results between studies, the conclusion of the endometriosis genetic pathway needed to be completed. This finding of WNT4 showed that its association with endometriosis was valid even in varied ethnicities, indicating a general genetic aspect of disease across populations. Nevertheless, further studies are needed to confirm this finding, including functional biological and longitudinal studies.

Clinical Diagnosis and Early Medical Management for Endometriosis: Consensus from Asian Expert Group.

This work provides consensus guidance regarding clinical diagnosis and early medical management of endometriosis within Asia. Clinicians with expertise in endometriosis critically evaluated available evidence on clinical diagnosis and early medical management and their applicability to current clinical practices. Clinical diagnosis should focus on symptom recognition, which can be presumed to be endometriosis without laparoscopic confirmation. Transvaginal sonography can be appropriate for diagnosing pelvic endometriosis in select patients. For early empiric treatment, management of women with clinical presentation suggestive of endometriosis should be individualized and consider presentation and therapeutic need. Medical treatment is recommended to reduce endometriosis-associated pelvic pain for patients with no immediate pregnancy desires. Hormonal treatment can be considered for pelvic pain with a clinical endometriosis diagnosis; progestins are a first-line management option for early medical treatment, with oral progestin-based therapies generally a better option compared with combined oral contraceptives because of their safety profile. Dienogest can be used long-term if needed and a larger evidence base supports dienogest use compared with gonadotropin-releasing hormone agonists (GnRHa) as first-line medical therapy. GnRHa may be considered for first-line therapy in some specific situations or as short-term therapy before dienogest and non-steroidal anti-inflammatory drugs as add-on therapy for endometriosis-associated pelvic pain.

Treatment of cervical agenesis with minimally invasive therapy: Case report.

Cervical agenesis is very rare congenital disorder case with cervical not formed. Because of cervical clogged so that menstruation can not be drained. We Report the case of a19 years old women still single with endometrioma, hematometra, cervical agenesis and perform surgery combination laparoscopy and transvaginally with laparoscopic cystectomy, neocervix, and use catheter no 24f in the new cervix. And now she can currently be normal menstruation. Minimally invasive theraphy of congenital anomalies case is recommended to save reproductive function.