Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.

ABSTRACT:

Study question

Are genetic disorders and congenital malformations associated with premature ovarian insufficiency (POI)?

Summary answer

A wide range of genetic disorder and congenital malformation diagnoses are associated with POI, especially early onset POI.

What is known already

POI is known to be associated with some genetic disorders, such as Turner syndrome and Fragile X premutation. Multiple genetic syndromes, such as ataxia teleangiectasia and galactosemia, have also been associated with an increased risk of POI, and many of these genetic syndromes manifest with various congenital malformations. In previous studies, a genetic aetiology has been found for 7-15% of POI cases.

Study design, size, duration

This population-based study included 5011 women diag

SUBMITTER: Silven H 

PROVIDER: S-EPMC10233236 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature