{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(4)"],"submitter":["Cocchetti C"],"pubmed_abstract":["<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 "],"journal":["Sexual medicine"],"pagination":["100522"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9386624"],"repository":["biostudies-literature"],"pubmed_title":["A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development."],"pmcid":["PMC9386624"],"pubmed_authors":["Romani A","Mazzoli F","Maggi M","Fisher AD","Cocchetti C","Baldinotti F","Vignozzi L","Ristori J"],"additional_accession":[]},"is_claimable":false,"name":"A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.","description":"<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 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-04T14:22:48.951Z","creation":"2024-11-11T23:23:08.707Z"},"accession":"S-EPMC9386624","cross_references":{"pubmed":["35588601"],"doi":["10.1016/j.esxm.2022.100522"]}}