Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see 233300). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by Caburet et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Mutation in the STAG3 gene also causes male infertility; see spermatogenic failure-61 (SPGF61; 619672). [from
OMIM]