{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T05:35:19Z","timestamp":1785908119173,"version":"3.56.0"},"reference-count":43,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To examine the changes in diagnostic practices and clinical management of patients with 5\u03b1-reductase type 2 (SRD5A2) or 17\u03b2-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Clinical, laboratory, and therapeutic data were retrieved from the medical records of 52 patients with a molecular diagnosis of SRD5A2 (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200931) or HSD17B3 (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200921) deficiency. Temporal trends regarding age at assessment and initial sex assignment over 1994\u20132020 were qualitatively analyzed. Age at molecular diagnosis was compared between two subgroups of patients according to their year of birth.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Fifty-eight percent (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200930) patients were diagnosed during the perinatal period, 33% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200917) during infancy, and 9% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095) during adolescence or adulthood. Over the studied period, the patients\u2019 age at initial assessment and diagnosis frankly decreased. The median (range) age at diagnostic confirmation was 10.5 (0\u201353.2) years for patients born before 2007 and 0.4 (0\u20139.3) years for those born in 2007 or later (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.029). Genetic testing identified 27 different variants for the\n                      <jats:italic>SRD5A2<\/jats:italic>\n                      gene (30% novel,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20098) and 18 for the\n                      <jats:italic>HSD17B3<\/jats:italic>\n                      gene (44% novel,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20098). Before 2002, most patients were initially assigned as females (95%,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200919), but this proportion dropped for those born later (44%,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200914;\n                      <jats:italic>P<\/jats:italic>\n                      &lt; 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                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092) patients requested female-to-male reassignment during adulthood.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study showed, over the past two decades, a clear trend toward earlier diagnosis and assignment of affected newborns as males.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-22-0227","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T06:04:01Z","timestamp":1672985041000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":9,"title":["Changes in the clinical management of 5\u03b1-reductase type 2 and 17\u03b2-hydroxysteroid dehydrogenase type 3 deficiencies in France"],"prefix":"10.1530","volume":"12","author":[{"given":"Estelle","family":"Bonnet","sequence":"first","affiliation":[{"name":"Hospices Civils de Lyon, H\u00f4pital Femme-M\u00e8re-Enfant, Service d\u2019endocrinologie p\u00e9diatrique, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5990-810X","authenticated-orcid":true,"given":"Mathias","family":"Winter","sequence":"additional","affiliation":[{"name":"Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN, Hospices Civils de Lyon, Bron, France"},{"name":"Hospices Civils de Lyon, H\u00f4pital Femme-M\u00e8re-Enfant, Service de psychopathologie du d\u00e9veloppement, Bron, France"},{"name":"Hospices Civils de Lyon, H\u00f4pital Femme-M\u00e8re-Enfant, Centre de biologie et pathologie Est, Service d\u2019hormonologie, d\u2019endocrinologie mol\u00e9culaire et des maladies rares, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Mallet","sequence":"additional","affiliation":[{"name":"Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN, Hospices Civils de Lyon, Bron, France"},{"name":"Hospices Civils de Lyon, H\u00f4pital Femme-M\u00e8re-Enfant, Centre de biologie et pathologie Est, Service d\u2019hormonologie, d\u2019endocrinologie mol\u00e9culaire et des maladies rares, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Plotton","sequence":"additional","affiliation":[{"name":"Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN, Hospices Civils de Lyon, Bron, France"},{"name":"Hospices Civils de Lyon, H\u00f4pital Femme-M\u00e8re-Enfant, Service Endocrinologie Mol\u00e9culaire et Maladies Rares, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Bouvattier","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP, H\u00f4pital Bic\u00eatre, Service d\u2019endocrinologie p\u00e9diatrique Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN Universit\u00e9 Paris Saclay, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryse","family":"Cartigny","sequence":"additional","affiliation":[{"name":"Centre Hospitalier R\u00e9gional Universitaire Lille, H\u00f4pital Jeanne de Flandre, Unit\u00e9 d\u2019Endocrinologie p\u00e9diatrique Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laetiti","family":"Martinerie","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP, H\u00f4pital Robert Debr\u00e9, Service d\u2019Endocrinologie p\u00e9diatrique Centre de R\u00e9f\u00e9rence des Maladies Rares Endocriniennes de la Croissance et du D\u00e9veloppement \u2013 CRMERC Universit\u00e9 de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP, H\u00f4pital universitaire Necker Enfants malades, Endocrinologie gyn\u00e9cologie diab\u00e9tologie p\u00e9diatriques Centre de r\u00e9f\u00e9rence des maladies endocriniennes rares de la croissance et du d\u00e9veloppement Inserm U1016, institut Imagine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bachelot","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP, H\u00f4pital Piti\u00e9 Salp\u00eatri\u00e8re, Department of Endocrinology and Reproductive Medicine Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement Centre de R\u00e9f\u00e9rence des pathologies gyn\u00e9cologiques rares IE3M, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Huet","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire Dijon-Bourgogne, H\u00f4pital d\u2019Enfants, Service de P\u00e9diatrie Multidisciplinaire, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[{"name":"Centre Hospitalier universitaire de Nantes, H\u00f4pital M\u00e8re-Enfant, Service de P\u00e9diatrie, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Houang","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP, H\u00f4pital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Soskin","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux Universitaires de Strasbourg, CHU Hautepierre, Service de P\u00e9diatrie 1, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Lienhardt","sequence":"additional","affiliation":[{"name":"Centre hospitalier universitaire Limoges, H\u00f4pital de la M\u00e8re et de l\u2019enfant, Service de P\u00e9diatrie, Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bertherat","sequence":"additional","affiliation":[{"name":"Groupement 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Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Duranteau","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Bic\u00eatre, Unit\u00e9 de gyn\u00e9cologie de l\u2019adolescente Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN Universit\u00e9 Paris Saclay, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Besson","sequence":"additional","affiliation":[{"name":"Centre Hospitalier R\u00e9gional Universitaire Lille, H\u00f4pital Jeanne de Flandre, Service de chirurgie p\u00e9diatrique Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaa","family":"El Ghoneimi","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP Robert Debr\u00e9, Service de Chirurgie Visc\u00e9rale et Urologie p\u00e9diatrique Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes de la croissance et du d\u00e9veloppement \u2013 CRMERC Universit\u00e9 de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinane","family":"Samara-Boustani","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire AP-HP, H\u00f4pital Necker Enfants malades, Endocrinologie gyn\u00e9cologie diab\u00e9tologie p\u00e9diatriques Centre de r\u00e9f\u00e9rence des maladies endocriniennes rares de la croissance et du d\u00e9veloppement, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Becmeur","sequence":"additional","affiliation":[{"name":"Hospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie p\u00e9diatrique, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Kalfa","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Montpellier, H\u00f4pital Lapeyronie, Service de Chirurgie Visc\u00e9rale et Urologie P\u00e9diatrique Centre National de R\u00e9f\u00e9rence Maladies Rares du D\u00e9veloppement G\u00e9nital Constitutif Sud Institut Debrest de Sant\u00e9 Publique IDESP, UMR INSERM, Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Paris","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Montpellier, H\u00f4pital Lapeyronie, Service de N\u00e9phrologie et Endocrinologie P\u00e9diatrique Centre National de R\u00e9f\u00e9rence Maladies Rares du d\u00e9veloppement g\u00e9nital du f\u0153tus \u00e0 l\u2019adulte DEV-GEN, Montpellier, 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