Primary ovarian insufficiency (POI) can be caused by mutations in the follicle-stimulating hormone (FSH) receptor, which leads to FSH-resistant ovaries (FSHRO). Women with this single-gene form of POI tend to have high gonadotrophin levels, normal levels of anti-Müllerian hormone and shorter height (compared with women with other forms of POI).

Luiro et al. set about characterising longer term health outcomes in a small Finnish cohort of women with FSHRO, using data from the national FINRISK population cohort as controls. They found that FSHRO was associated with reduced bone density despite oestrogen replacement, but not with increased cardiometabolic risk (although a more android distribution of body fat was observed). More than half of the cohort had small streak ovaries on examination, with only a small number showing antral follicles. However, oocyte donation resulted in successful pregnancies for the majority of women. The team also found that depression and sexual dysfunction were more commonly reported in the FSHRO cohort compared with controls.

They concluded that earlier initiation of hormone replacement therapy might be beneficial in women with FSHRO, and that their healthcare professionals should remember the need to address psychological and sexual well-being.

Read the full article in Endocrine Connections 8 1354–1362