Premature ovarian insufficiency in adolescence: a chance for early diagnosis?

Premature ovarian insufficiency (POI) is typically diagnosed when amenorrhea is combined with high gonadotrophins and hypoestrogenemia in a woman under 40 years of age, although, more rarely, POI can develop in adolescence and present with delayed puberty or amenorrhea, depending on the timing of follicular depletion or insult to the ovary. In a proportion of girls, the diagnosis may be made at an early stage of POI, presenting with abnormal uterine bleeding, when some follicular function is still retained. The natural history of POI in this group of patients is not clear; however, they could represent a subgroup with a unique opportunity for early intervention and thus the provision of fertility preservation options. While the etiology of POI in a large number of girls remains unknown, a growing number will be identified as carriers of genetic mutations, offering clinicians a yet greater opportunity to provide genetic counseling to other female family members. The aim of this review is to provide information regarding the etiology, diagnosis, and treatment of POI in adolescents while detailing the new options for fertility preservation when POI is diagnosed at an early stage.