Case report and literature review: A 46, XX infant with atypical genitalia diagnosed with primary ovarian insufficiency (POI) caused by HFM1 gene variants
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Primary Ovarian Insufficiency (POI) due to single gene variant is classified as a 46,XX difference of sexual development. Variants in the Helicase Family Member 1 (HFM1) gene are associated with POI in females and non-obstructive azoospermia in males. Case rep... ...
