{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:08:47Z","timestamp":1792663727391,"version":"4.5.0"},"reference-count":105,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>P450 oxidoreductase (POR) deficiency is a rare congenital adrenal hyperplasia with variable severity. The mechanisms of severe mutations and their full metabolic consequences, including drug metabolism, are not fully characterized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To define the clinical, biochemical, and molecular consequences of a novel homozygous POR missense mutation, p.Gly88Ser (G88S), identified in 4 unrelated Argentine families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>A translational study combining clinical case series analysis with comprehensive in vitro molecular and functional characterization of the novel protein variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Tertiary pediatric endocrine centers in Argentina and Switzerland.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>We report 5 individuals (4 46,XY; 1 46,XX) from 4 unrelated families presenting with disorders of sex development and adrenal dysfunction.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measures<\/jats:title>\n                    <jats:p>Clinical phenotypes, hormonal profiles, and POR gene sequencing. In vitro analysis of recombinant POR measured flavin content, reductase activity, and support of steroidogenic and drug-metabolizing P450s.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All patients were homozygous for the c.262G&amp;gt;A (p.G88S) mutation. This FMN binding domain variant caused protein instability with severe loss of FMN (&amp;lt;30%) and FAD (&amp;lt;15%) cofactors. Steroidogenic activities were virtually abolished (CYP21A2: 1.3%; CYP17A1 17,20-lyase: 5.5% of wild-type), explaining the clinical phenotype. Activities of major drug-metabolizing enzymes were also severely impaired (3%-9% of wild-type), establishing a \u201cpoor metabolizer\u201d phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The POR G88S mutation causes one of the most severe forms of PORD described, driven by dynamic protein instability and cofactor loss. It is a critical pharmacogenomic marker, and its recurrence in Argentina suggests a potential screening target.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf630","type":"journal-article","created":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T12:52:14Z","timestamp":1763470334000},"page":"e1302-e1321","source":"Crossref","is-referenced-by-count":3,"title":["A Novel\n                    <i>POR<\/i>\n                    G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9132-681X","authenticated-orcid":false,"given":"Maria Natalia","family":"Rojas Velazquez","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University Hospital Bern , Bern CH-3010 ,","place":["Switzerland"]},{"name":"Department of Biomedical Research, University of Bern , Bern CH-3010 ,","place":["Switzerland"]},{"name":"Graduate School for Cellular and Biomedical Sciences, University of Bern , Bern CH-3012 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jimena","family":"Lopez Dacal","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET-FEI-Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez , C1425EFD Buenos Aires ,","place":["Argentina"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8040-2998","authenticated-orcid":false,"given":"Flemming Steen","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen DK-2100 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6380-9742","authenticated-orcid":false,"given":"Nora","family":"Sanguineti","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr C\u00e9sar Bergad\u00e1\u201d (CEDIE), CONICET-FEI-Divisi\u00f3n de Endocrinolog\u00eda, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez , C1425EFD Buenos Aires ,","place":["Argentina"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6818-0931","authenticated-orcid":false,"given":"Katyayani","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Bern , Bern CH-3010 ,","place":["Switzerland"]},{"name":"Department of Biomedical Research, University of Bern , Bern CH-3010 ,","place":["Switzerland"]},{"name":"Graduate School for Cellular and Biomedical Sciences, University of Bern , Bern CH-3012 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxana","family":"Marino","sequence":"additional","affiliation":[{"name":"Servicio de Endocrinolog\u00eda, Hospital de Pediatr\u00eda Juan P. 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