Purpose of review: To raise awareness about the importance of early diagnosis of primary ovarian insufficiency (POI) in the adolescent.
Recent findings: Menstrual cycle irregularity or amenorrhea in the adolescent has historically been treated with oral contraceptives or ignored, with no evaluation done to determine the cause. However, it is now becoming clear that the health consequences of menstrual irregularities differ depending on the cause, and evaluation to determine the cause of menstrual irregularity is warranted. Although POI is classically diagnosed when menstrual cycle irregularity is accompanied by high circulating levels of gonadotropins and low estradiol, anti-Mullerian hormone is emerging as a biomarker of increasing importance. When POI is diagnosed, further evaluation including karyotype, FMR1 premutation analysis, and 21-hydroxylase or adrenal antibody is warranted. Girls at high risk for the development of POI (e.g. because of planned cancer treatment) should be offered the option of oocyte or ovarian tissue cryopreservation.
Summary: POI should be ruled out in adolescents with menstrual cycle irregularity. Early diagnosis of POI facilitates the individualization of therapy, as the health consequences of POI differ from those of other causes of menstrual cycle irregularity. In addition, recognition of premature oocyte depletion allows for the option of fertility preservation to be discussed when oocytes are still present.