A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development

INTRODUCTION: Deficiency of the 17β-hydroxysteroid dehydrogenase type 3 (17 β-HSD3) is a rare autosomal recessive 46,XY Difference of sex development (DSD), resulting from pathogenetic variants in the HSD17B3 gene, which lead to absent or reduced ability to convert Δ4-androstenedione to testosterone...

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Detalles Bibliográficos
Autores principales: Cocchetti, Carlotta, Baldinotti, Fulvia, Romani, Alessia, Ristori, Jiska, Mazzoli, Francesca, Vignozzi, Linda, Maggi, Mario, Fisher, Alessandra Daphne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386624/
https://www.ncbi.nlm.nih.gov/pubmed/35588601
http://dx.doi.org/10.1016/j.esxm.2022.100522

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