In light of connecting etiological link between infertility and RM as reviewed in this study, interrogating the oocyte-specific genes with suspected roles in reproductive biology, in cases of unexplained RM, may open new possibilities in widening our understanding of RM pathophysiology.

We documented preliminary data on the prevalence of GZ and PM carriers among the studied cohorts. The identification of PM carriers among women with POI serves a dual purpose of recognizing a cause for ovarian dysfunction and enabling genetic counselling, which will help carriers when making reproductive decisions.

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