biostudies-literatureUnknown10(4)Cocchetti C<h4>Introduction</h4>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 in the fetal testes.<h4>Aim</h4>This study aimed to present the clinical and genetic characteristics of an Italian patient receiving a diagnosis of 17 β-HSD3 deficiency in adulthood. The patient was raised as female and underwent early surgical interventions to correct virilized genitalia, leading to a significant sexual distress.<h4>Methods</h4>At the time of the referral, a 20-gene Next Generation Sequencing custom-panel for DSD was performed on patient's genomic DNA.<h4>Results</h4>A Sexual medicine100522https://www.ebi.ac.uk/biostudies/studies/S-EPMC9386624biostudies-literatureA Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.PMC9386624Romani AMazzoli FMaggi MFisher ADCocchetti CBaldinotti FVignozzi LRistori JfalseA Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.<h4>Introduction</h4>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 in the fetal testes.<h4>Aim</h4>This study aimed to present the clinical and genetic characteristics of an Italian patient receiving a diagnosis of 17 β-HSD3 deficiency in adulthood. The patient was raised as female and underwent early surgical interventions to correct virilized genitalia, leading to a significant sexual distress.<h4>Methods</h4>At the time of the referral, a 20-gene Next Generation Sequencing custom-panel for DSD was performed on patient's genomic DNA.<h4>Results</h4>A 2022-01-01T00:00:00Z2022 Aug2025-04-04T14:22:48.951Z2024-11-11T23:23:08.707ZS-EPMC93866243558860110.1016/j.esxm.2022.100522