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Case Report and Literature Review: A 46,XX Infant with Atypical Genitalia Diagnosed with Primary Ovarian Insufficiency Caused by HFM1 Gene Variants.

Hormone research in paediatrics - 1 Jan 2026

Yuan Zheng, Cheng Ming, Meng Xi, Cao Bingyan, Gong Chunxiu

Abstract excerpt

INTRODUCTION: 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 PRESENTATION: We described a case of POI with unique genital characteristics, including clitoromegaly, fusion of the labia majora, an opening of...

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PMID: 39929154
DOI: 10.1159/000544052

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HFM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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