Purpose To identify candidate variants in genes possibly associated with premature ovarian
insufficiency (POI). Methods Fourteen women, from 7 families, affected by idiopathic POI …

Objective To study the diagnostic yield, including variants in genes yet to be incriminated, of
whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI) …

Purpose To investigate the potential etiologies of premature ovarian insufficiency (POI) and
diminished ovarian reserve (DOR). Methods Fourteen women with sporadic POI and 6 …

Background The loss of ovarian function in women, referred to as premature ovarian
insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically …

The role in POI for most reported candidate genes is still under discussion. Because POI
families with several affected cases are rare, linkage studies are difficult to conduct; …

Premature ovarian failure (POF) is a common cause of infertility in women, characterized by
amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age …

Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of
infertility. It is often considered to be a monogenic disorder, with pathogenic variants in∼ …

Background Premature ovarian insufficiency refers to the loss of ovarian function before 40
years of age. The etiology is heterogeneous, and genetic factors account for 20–25% of …

STUDY QUESTION Is it possible to identify new mutations potentially associated with non-
syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES) …

Primary ovarian insufficiency (POI), affecting up to 1 in 100 females, is characterized by
oligomenorrhea or amenorrhea with raised gonadotropins and low estradiol. It can result …