Genetic tests

In women with a diagnosis of POI, where the underlying cause is not known, referral to discuss chromosomal analysis should be offered. Then assessment of the karyotype and the FMR1 gene premutation can be offered.

Where resources are limited, women with early POI (<30 years), those with learning difficulties and those with a family history can be prioritised for genetic tests. Although ideally all women with POI would be offered genetic tests.