Women's healthcare providers' knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI)

Purpose: This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis. The objective of this study was to describe these gaps and explore demographic factors influencing FXPOI knowledge in women's healthcare practitioners.

Methods: A survey assessed familiarity with primary ovarian insufficiency and FXPOI knowledge among 107 women's healthcare providers and 14 medical students in the USA. Knowledge Scores, ranging from 0 to 16, were assigned, and demographic data, including healthcare provider type, specialty, and genetics exposure in education or training, were collected.

Results: Participants scored an average of 6.92 (± 2.19) out of 16 (42%) despite 88% of participants reporting genetics exposure in training. Maternal fetal medicine (MFM) and reproductive endocrinology (REI) providers significantly outperformed general obstetrics and gynecology (OBGYN) practitioners (p = 0.0186 and 0.0125, respectively). Participants with a genetic counselor in their clinic scored 8% higher (p = 0.0083) than those without. Additionally, medical school graduation year was a significant predictor for knowledge score (p = 0.0397).

Conclusion: This study underscores limited FXPOI knowledge among women's healthcare providers, aligning with patient reports. Notably, medical specialty and the presence of a genetic counselor impacted knowledge, emphasizing the urgency for broader education in women's healthcare, particularly among OBGYNs, the initial point of contact for patients with POI symptoms.