Timely diagnosis is vital: The effect of delayed diagnosis on bone mineral density in women with premature ovarian insufficiency

Background: The long-term effect of Premature Ovarian Insufficiency (POI) on bone mineral density (BMD) is well recognised. Little is known about the early effects of POI on the rate of bone loss or the consequences of delayed diagnosis. The aim of this study was to explore the effect of aetiology and time to diagnosis on BMD in POI. Methods: Retrospective database analysis of 563 patients from the West London Menopause and PMS Centre, where data is recorded in the International POI Registry. Results: 563 patients were included in the analysis. Aetiology was classified as idiopathic (60.4%), genetic (2.1%) or iatrogenic following treatment for malignancy (25.6%) or benign conditions (11.9%). Overall, at the time of diagnosis 32.3% had osteopenia and 4.3% had osteoporosis. Mean T score in patients with idiopathic POI was significantly lower at both the spine (p = 0.001) and hip (p = 0.02) than in patients with iatrogenic POI. Time to diagnosis was significantly longer in women with idiopathic POI (median 12 months) compared to iatrogenic POI (median 0 months) (p = 0.001). Longer time to diagnosis was associated with lower BMD. For every 1 month increase in time to diagnosis the BMD measured decreased by 0.026 at the spine (p = 0.001) and 0.018 at the femur (p = 0.013). Women with an underlying genetic cause had high rates of osteopenia (25%) and osteoporosis (25%). This may be because they are diagnosed at a significantly younger age (mean 23.7 years) compared to other aetiologies (idiopathic mean 33.2 years, benign 32.6 years, cancer 31.1 years) (p < 0.0001). Conclusions: Delayed diagnosis is common in women with POI and has a detrimental effect on BMD. The NICE Guidelines now include clear diagnostic criteria for POI. Early diagnosis is essential to ensure timely treatment and prevention of bone loss.