The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).

ABSTRACT:

Purpose

The fragile X premutation occurs when there are 55-200 CGG repeats in the 5' UTR of the FMR1 gene. An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in the literature, limiting insight on experiences surrounding the diagnosis. This study identifies barriers and facilitators to receiving a FXPOI diagnosis and follow-up care, which can inform care and possibly improve quality of life.

Methods

We conducted qualitative interviews with 24 women with FXPOI exploring how FMR1 screening, physician education, and supportive care impacted their experience. Three subgroups were compared: women diagnosed through

SUBMITTER: Poteet B 

PROVIDER: S-EPMC9840735 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature