Abstract
Premature ovarian insufficiency (POI) is an uncommon condition affecting 1–2% of women younger than 40, 1 in 1,000 in their thirties and 1 in 10,000 under 20 years of age. The multiple etiologies of this clinical condition can be classified as primary (chromosomal, genetic, endocrine, infectious, autoimmune) and secondary or iatrogenic (surgery, chemotherapy and/or radiotherapy). Despite important progress in genetics, most of the cases of primary POI are still classified as idiopathic. POI is defined by the association of one clinical and one biological criterion: primary or secondary amenorrhea or cycle irregularities of more than 4 months with onset before 40 years of age, and elevated follicle-stimulating hormone (FSH) on 2 assays at different times. Commonly, estradiol levels are low, and anti-Müllerian hormone (AMH) levels are almost undetectable. Initial diagnostic procedures comprise hormonal and auto-immune assessment, karyotype, FMR1 premutation screening and gene-panel study. The term ovarian insufficiency suggests that the lack of function is not necessarily definitive; therefore, it is important not to use the term premature menopause when a young patient is reporting this condition, since in some cases ovarian function may be restored spontaneously, and pregnancy may occur in about 6% of cases. In confirmed POI, hormone replacement therapy is mandatory at least up to the physiological age of the menopause onset. Management in a tertiary center is suggested.
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