{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(3)"],"submitter":["Bonnet E"],"pubmed_abstract":["<h4>Objectives</h4>To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available.<h4>Methods</h4>Clinical, laboratory, and therapeutic data were retrieved from the medical records of 52 patients with a molecular diagnosis of SRD5A2 (n = 31) or HSD17B3 (n = 21) deficiency. Temporal trends regarding age at assessment and initial sex assignment over 1994-2020 were qualitatively analyzed. Age at molecular diagnosis was compared between two subgroups of patients according to their year of birth.<h4>Results</h4>Fifty-eight percent (n = 30) patients were diagnosed during the perinatal period, 33% (n = 17) during infancy, and 9% (n = 5) during adolescence or adulthood. Over the studied period, the patients' age at initial assessment and diagnosis frankly decreased. The median (range) age at diagnostic confirmation was 10.5 (0-53.2) years for patients born before 2007 and 0.4 (0-9.3) years for those born in 2007 or later (P = 0.029). Genetic testing identified 27 different variants for the SRD5A2 gene (30% novel, n = 8) and 18 for the HSD17B3 gene (44% novel, n = 8). Before 2002, most patients were initially assigned as females (95%, n = 19), but this proportion dropped for those born later (44%, n = 14; P < 0.001). The influence of initial genital appearance on these decisions seemingly decreased in the most recent years. Therapeutic interventions differed according to the sex of rearing. Ten percent (n = 2) patients requested female-to-male reassignment during adulthood.<h4>Conclusion</h4>This study showed, over the past two decades, a clear trend toward earlier diagnosis and assignment of affected newborns as males."],"journal":["Endocrine connections"],"pagination":["e220227"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9986397"],"repository":["biostudies-literature"],"pubmed_title":["Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France."],"pmcid":["PMC9986397"],"pubmed_authors":["Houang M","Kalfa N","Bachelot A","Soskin S","Lienhardt A","El Ghoneimi A","Nicolino M","Bonnet E","Gay CL","Cartigny M","Baron S","Paris F","Bouty A","Mallet D","Samara-Boustani D","Plotton I","Bretones P","Bouvattier C","Duranteau L","Brac de la Perriere A","Winter M","Bertherat J","Medjkane F","Becmeur F","Amouroux C","Mouriquand P","Gorduza DB","Martinerie L","Polak M","Lejeune H","Besson R","Huet F"],"additional_accession":[]},"is_claimable":false,"name":"Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.","description":"<h4>Objectives</h4>To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available.<h4>Methods</h4>Clinical, laboratory, and therapeutic data were retrieved from the medical records of 52 patients with a molecular diagnosis of SRD5A2 (n = 31) or HSD17B3 (n = 21) deficiency. Temporal trends regarding age at assessment and initial sex assignment over 1994-2020 were qualitatively analyzed. Age at molecular diagnosis was compared between two subgroups of patients according to their year of birth.<h4>Results</h4>Fifty-eight percent (n = 30) patients were diagnosed during the perinatal period, 33% (n = 17) during infancy, and 9% (n = 5) during adolescence or adulthood. Over the studied period, the patients' age at initial assessment and diagnosis frankly decreased. The median (range) age at diagnostic confirmation was 10.5 (0-53.2) years for patients born before 2007 and 0.4 (0-9.3) years for those born in 2007 or later (P = 0.029). Genetic testing identified 27 different variants for the SRD5A2 gene (30% novel, n = 8) and 18 for the HSD17B3 gene (44% novel, n = 8). Before 2002, most patients were initially assigned as females (95%, n = 19), but this proportion dropped for those born later (44%, n = 14; P < 0.001). The influence of initial genital appearance on these decisions seemingly decreased in the most recent years. Therapeutic interventions differed according to the sex of rearing. Ten percent (n = 2) patients requested female-to-male reassignment during adulthood.<h4>Conclusion</h4>This study showed, over the past two decades, a clear trend toward earlier diagnosis and assignment of affected newborns as males.","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Mar","modification":"2026-05-29T05:30:34.64Z","creation":"2025-02-18T23:44:50.707Z"},"accession":"S-EPMC9986397","cross_references":{"pubmed":["36606580"],"doi":["10.1530/EC-22-0227"]}}