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hrp0095p2-272 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare HSD17B3 Gene Variant Presenting Virilization at Puberty: Management and Treatment in Adolescent Age.

Berveglieri Vittoria , Folgheraiter Valentina , Di Paola Rossana , Bertelloni Silvano , Baldinotti Fulvia , Dal Ben Sarah , Cavarzare Paolo , Antoniazzi Franco , Gaudino Rossella

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

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A Rare HSD17B3 Gene Variant Presenting Virilization at Puberty: Management and Treatment in Adolescent Age.

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