Alla Vash-Margita, MD, FACOG, discusses microRNAs as earlier detection biomarkers for endometriosis

Endometriosis remains a primary cause of chronic pelvic pain and infertility, yet patients face a staggering diagnostic delay of up to 14 years in adolescence. To bridge this gap, researchers at the Yale School of Medicine have identified novel biomarkers that could enable early, non-invasive detection.^1,2

Alla Vash-Margita, MD, FACOG, Associate professor, Obstetrics, Gynecology & Reproductive; Division chief, Pediatric and Adolescent Gynecology, Yale School of Medicine, served as the lead author of the study published in Reproductive Biology and Endocrinology. Alongside colleague Hugh Taylor, MD, Anita O’Keeffe Young Professor of Obstetrics, Gynecology, and Reproductive Sciences at Yale School of Medicine—whose previous research uncovered molecular biomarkers in the blood that can help scientists accurately and non-invasively detect endometriosis in adults—the investigative team sought to highlight microRNAs in adolescent patients with endometriosis and in adults.

Adolescent molecular fingerprint of endometriosis

The study analyzed 51 adolescents and young adults aged 13 to 26 who had pelvic pain and who were undergoing gynecologic surgery. By isolating small, non-coding molecules known as microRNAs (miRNAs) from blood samples prior to surgery, the team identified a distinct profile unique to early-stage disease.

“We realized there are 4 microRNAs that were significantly elevated in patients with endometriosis and 18 unique microRNAs that were significantly decreased,” Vash-Margita explained. This discovery provides a "signature" profile that differs from the biomarkers previously identified in older adult populations.

Vash-Margita emphasized the importance of this age-specific focus: “Diagnosing endometriosis in a woman in her 30s or 40s who is trying to get pregnant is way too late. We need to shift to early diagnosis and focus on adolescents who are suffering from this disease.”

A non-invasive adjunct to laparoscopy

Currently, the necessity of general anesthesia and the surgical risks associated with laparoscopy often deter families from seeking a definitive diagnosis. The hope is that a blood test could serve as a non-invasive adjunct to clinical history and ultrasonography.

“If we as a medical community can offer a non-invasive test to diagnose endometriosis with certain precision, that will be great,” Vash-Margita noted. She added that such a test would be easily performed in a clinic setting, allowing clinicians to prove the presence of the disease in earlier stages before it causes irreversible damage. “We finally have a way to detect this disease that is so often ignored and misdiagnosed,” added senior author Hugh Taylor, MD.

Combatting the normalization of menstrual pain

Beyond the molecular findings, Vash-Margita stressed the need for a cultural shift in how pediatricians and gynecologists approach menstrual pain. She noted that many patients see multiple providers before endometriosis is even suggested as a possibility.

“Menstrual pain or cramps is the only pain that we kind of normalized, and that is not appropriate,” Vash-Margita stated. “I have heard pediatricians say, 'Oh, you have painful periods; take Motrin and go along your way.' That is not okay. We need to listen to our patients.”

While further validation trials following this preclinical data are required, the team is optimistic that this miRNA signature will soon provide the hard data needed to guide early intervention.

“I tell my residents and students: if all fails, go back and talk to your patients. If you do not know the diagnosis, go back and talk to them. They will tell you; they will guide you. Trust your patient, and trust your instincts as well,” Vash-Margita concluded.

References:

1. Backman I. Diagnosing endometriosis: New biomarkers enable early, noninvasive detection. Yale School of Medicine. Published January 15, 2026. Accessed March 24, 2026. https://medicine.yale.edu/obgyn/news-article/diagnosing-endometriosis-biomarkers-enable-early-noninvasive-detection/
2. Vash-Margita A, Mamillapalli R, Pyneni K, Morgenstern D, Taylor HS. Identifying serum microRNAs as biomarkers for endometriosis in adolescents and young adults. Reprod Biol Endocrinol. 2025 Nov 24;23(1):166. doi:10.1186/s12958-025-01502-z