397 - Endometriosis and adenomyosis: diagnosis, fertility, reproductive aging, & emerging treatments
In a Nutshell
Endometriosis and adenomyosis are chronic, estrogen-driven diseases with ~50% heritability that cause pain, heavy bleeding, and infertility through progesterone-resistant lesions, adhesions, and junctional-zone disruption; modern women face fourfold higher lifetime ovulatory cycles than historical norms, driving rising prevalence. Non-invasive diagnosis via expert ultrasound or MRI now replaces routine laparoscopy, enabling earlier treatment that prevents central sensitization, while surgery is reserved for large endometriomas, obstruction risk, or failed medical therapy. Fertility outcomes hinge primarily on age-related aneuploidy and ovarian reserve rather than the diseases themselves; GnRH suppression improves adenomyosis implantation rates, and egg freezing at 32–35 maximizes euploid yield before sharp fertility decline.
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The discussion begins by focusing on diseases of the uterus, primarily endometriosis, followed by infertility and associated treatments.
The uterus consists of three main layers: the outer serosa, the middle muscular layer called the myometrium, and the inner endometrium where the embryo implants and the placenta develops. Endometriosis is defined as a chronic disease in which endometrial-like tissue appears outside the uterus, commonly affecting the fallopian tubes, ovaries, bowel, bladder, appendix, and diaphragm.
Endometriosis affects approximately 10% of reproductive-age women globally, equating to roughly 200 million women. Among infertile women, the prevalence rises to 30-50%. Women with endometriosis face approximately a 40% chance of infertility, indicating a causal relationship.
The endometrial layer is dynamic and changes throughout the menstrual cycle. The myometrium contracts during childbirth. The outer serosa functions as visceral peritoneum; endometriosis can occur here and may progress to external adenomyosis.
Endometriosis shows approximately 50% heritability. Women with a first-degree relative (mother or sister) have about seven times higher risk. Twin studies indicate shared genes with incomplete penetrance. Environmental triggers may include pollution. A key factor is repetitive ovulatory menstruation, where retrograde menstruation allows menstrual flow to travel through the fallopian tubes into the pelvis.
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