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GTR Home > Conditions/Phenotypes > Premature ovarian failure 8

Premature ovarian failure 8

Summary

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]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SA3, SPGF61, STAG3
    Summary: STAG3 cohesin complex component

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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