Aetiology
Charles Koh in An Atlas of ENDOMETRIOSIS, 2020
Endometriosis is one of the most common problems encountered in gynaecology. It affects women in their reproductive years and has been described as second only to uterine fibroids as the most common reason for surgery in premenopausal women. Endometriosis affects women in the reproductive years, is associated with pelvic pain and infertility and, although not life threatening, can seriously impair health. It has huge economic and social consequences. The economic cost can be calculated directly in terms of health care resources consumed, and indirectly in terms of lost work capacity. Endometriosis is primarily a disease of the reproductive years, and is only rarely described in adolescents and postmenopausal women. The precise aetiology of endometriosis still remains unknown. It has often been called the disease of theories, because of the many postulated theories to explain its pathogenesis. The most popular theory is that proposed by Sampson in 1921.
Chronic pelvic pain and endometriosis
Eduardo Lara-Torre, Veronica Gomez-Lobo in Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Endometriosis is a chronic inflammatory condition defined by endometrial stroma and glands found outside of the uterine cavity. The initial evaluation of any adolescent with either acute or chronic pelvic pain should be directed toward excluding organic pathology. Both acute and chronic pelvic pain can be associated with trigger points in the abdomen, vagina, or sacral area. In a systematic review published in 2013, approximately two-thirds of adolescent girls with chronic pelvic pain or dysmenorrhea were found to have laparoscopic evidence of endometriosis. In many circumstances, bimanual exam may not even be necessary, but palpation or inspection of the anus may help elucidate the presence of pelvic floor spasm, and a rectal, rather than a rectovaginal, examination may be useful for patients with suspected deep infiltrating endometriosis. Surgical management of endometriosis is indicated for pain refractory to medical management, advanced disease with involvement of the bowel, ureters, or nerves, and associated subfertility.
Endometriosis
Botros Rizk, A. Mostafa Borahay, Abdel Maguid Ramzy in Clinical Diagnosis and Management of Gynecologic Emergencies, 2020
This chapter focuses on endometriosis-related emergencies, using case reports to illustrate each clinical scenario. The numerous fibrotic foci found in the intestinal wall are consistent with chronic inflammation from endometriosis and demonstrate the progressive and constrictive nature of the disease. The mucosa may only be affected in about 10% of cases; thus, lower or upper endoscopic evaluation of the bowel lumen cannot rule out intestinal endometriosis. Many patients presenting with an acute abdomen due to bowel endometriosis are suspected of having a malignancy once the endometriotic implant is found intraoperatively, before it is examined histologically. Awareness of intestinal endometriosis presenting as an acute abdomen and mimicking malignancy helps patients receive more appropriate care. The most common site of endometriosis outside the abdominopelvic cavity is within the thoracic cavity. Thoracic disease can occur in isolation, but in 50% to 84% of patients with this diagnosis, there is concomitant pelvic endometriosis, which is typically extensive.
Complete remission of cerebral endometriosis with dienogest: a case report
Published in Gynecological Endocrinology, 2018
Paolo Maniglio, Enzo Ricciardi, Federica Meli, Federica Tomao, Michele Peiretti, Donatella Caserta
The most recent evidences suggest the use of progesterone mimicking drugs for the treatment of endometriosis. Particularly, dienogest has been largely tested. However, the standard treatment of extra-pelvic endometriosis is debated. Particularly, cerebral localization of endometriosis is a very rare clinical condition. The surgical approach for such a particular disorder would consist in difficult procedures, thus leading to prefer the medical treatment. We hereby report the clinical case of a cerebral localization of endometriosis treated with dienogest who experienced a complete remission of the disease.
Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis
Published in Gynecological Endocrinology, 2020
Jun Lou, Yang Zou, Yong Luo, Zi-Yu Zhang, Fa-Ying Liu, Jun Tan, Xin Zeng, Lei Wan, Ou-Ping Huang
Endometriosis is a common gynecological disease affecting up to 10% of women at reproductive age. Prior combined studies implied that MYH8 mutations might exist in endometriosis. Here, 152 Han Chinese samples with ovarian endometriosis were analyzed for the presence of MYH8 mutations. Two heterozygous missense mutations in the MYH8 gene, c.1441A > C (p.I481L) and c.4057G > A (p.E1353K), were identified in our samples. These mutations were neither found in public databases nor detected in our 485 Han Chinese control women without endometriosis. The p.I481L-mutated sample belonged to 34-year-old, who had slightly elevated serum CA 125 (42.09 U/mL); while the sample with p.E1353K mutation belonged to 25 years old, who had a markedly increased serum CA125 (89.86 U/mL). The evolutionary conservation analysis results suggested that these MYH8 mutations caused highly conserved amino acid substitutions among vertebrate species. Both the mutations were predicted to be ‘disease causing’ by MutationTaster and SIFT programs. In addition, no association was observed between MYH8 mutations and the available clinical data. In summary, the present study identified two novel potential pathogenic mutations in the MYH8 gene in samples with ovarian endometriosis for the first time, implying that MYH8 mutations might play a positive role in the pathogenesis of endometriosis.
Noninvasive biomarkers of endometriosis: myth or reality?
Published in Expert Review of Molecular Diagnostics, 2014
Endometriosis affects 10% of premenopausal women and 35–50% of women with infertility, pelvic pain, or both. At present, endometriosis can only be diagnosed with surgery, where laparoscopy is considered a gold standard. Noninvasive biomarkers are thus urgently needed. In 2010, the peripheral biomarkers of endometriosis were systematically reviewed by May et al. However, with the introduction of ‘-omics’ technologies, we have witnessed immense progress in biomarker discovery, which now calls for an overview of recent studies. This report looks at potential blood and urine biomarkers of endometriosis published in the last 3 years. The current status of noninvasive diagnostic biomarkers of endometriosis is discussed, with the limitations of these studies identified and recommendations for future biomarker discovery provided.
Related Knowledge Centers
- Female Genitalia
- Ovary
- Pelvis
- Endometrium
- Uterus
- Female Genital Diseases
- Gynecologist