Key Clinical Points Primary Ovarian Insufficiency Primary ovarian insufficiency should be
considered in women younger than 40 years of age who present with new-onset irregular …

Menstrual cyclicity is a marker of health for reproductively mature women. Absent menses, or
amenorrhea, is often the initial sign of pregnancy—an indication that the system is …

Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

Genetic testing is becoming increasingly required at almost every stage of failed female
reproduction/infertility. Nonetheless, clinical evidence for the majority of identified gene …

Background Primary ovarian insufficiency (POI) affects 1% of women and is associated with
significant medical consequences. A genetic cause for POI can be found in up to 30% of …

Pediatric endocrinologists often evaluate and treat youth with delayed puberty.
Stereotypically, these patients are 14-year-old young men who present due to lack of …

STUDY QUESTION Is it possible to find the cause of primary ovarian insufficiency (POI) in
more women by extensive screening? SUMMARY ANSWER Adding next generation …

Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may
seriously affect the physical and mental health of women of reproductive age. POI primarily …

Context A genetic etiology likely accounts for the majority of unexplained primary ovarian
insufficiency (POI). Objective We hypothesized that heterozygous rare variants and variants …

Primary amenorrhea (PA) describes the complete absence of menses by the age of 15
years. It is a devastating diagnosis that can affect the adolescent's view of her femininity …