{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T05:19:31Z","timestamp":1788931171422,"version":"build-2803163510"},"reference-count":60,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T00:00:00Z","timestamp":1576022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data Sources<\/jats:title>\n                    <jats:p>PubMed and Web of Science from January 2004 to February 2018.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Selection<\/jats:title>\n                    <jats:p>Published case reports\/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data Extraction<\/jats:title>\n                    <jats:p>Patient data were manually extracted from the text of case reports\/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data Synthesis<\/jats:title>\n                    <jats:p>Of the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgz255","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T11:08:38Z","timestamp":1576062518000},"page":"e42-e52","source":"Crossref","is-referenced-by-count":36,"title":["P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships"],"prefix":"10.1210","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3250-8186","authenticated-orcid":false,"given":"Benjamin","family":"Dean","sequence":"first","affiliation":[{"name":"School of Medicine, Sydney, The University of Notre Dame Australia, Darlinghurst, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgina L","family":"Chrisp","sequence":"additional","affiliation":[{"name":"School of Medicine, Sydney, The University of Notre Dame Australia, Darlinghurst, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Quartararo","sequence":"additional","affiliation":[{"name":"School of Medicine, Sydney, The University of Notre Dame Australia, Darlinghurst, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann M","family":"Maguire","sequence":"additional","affiliation":[{"name":"The Children\u2019s Hospital, Westmead, NSW, Australia"},{"name":"The University of Sydney, Medical School, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihab","family":"Hameed","sequence":"additional","affiliation":[{"name":"The University of Sydney, Medical School, NSW, Australia"},{"name":"Sydney Children\u2019s Hospital, Randwick, NSW, Australia"},{"name":"University of New South Wales, School of Women\u2019s and Children\u2019s Health, Kensington, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce R","family":"King","sequence":"additional","affiliation":[{"name":"John Hunter Children\u2019s Hospital, NSW, Australia"},{"name":"University of Newcastle, Callaghan, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig F","family":"Munns","sequence":"additional","affiliation":[{"name":"The Children\u2019s Hospital, Westmead, NSW, Australia"},{"name":"The University of Sydney, Medical School, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Torpy","sequence":"additional","affiliation":[{"name":"Endocrine and Metabolic Unit, Royal Adelaide Hospital and University of Adelaide, North Terrace, Adelaide, SA, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Falhammar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"},{"name":"Menzies School of Health Research and Royal Darwin Hospital, Tiwi NT, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Louise","family":"Rushworth","sequence":"additional","affiliation":[{"name":"School of Medicine, Sydney, The University of Notre Dame Australia, Darlinghurst, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,12,11]]},"reference":[{"issue":"1-2","key":"2021122102220862700_CIT0001","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.mce.2010.10.022","article-title":"Consequences of POR mutations and mpolymorphisms","volume":"336","author":"Miller","year":"2011","journal-title":"Mol Cell Endocrinol."},{"issue":"2","key":"2021122102220862700_CIT0002","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.pharmthera.2013.01.010","article-title":"NADPH P450 oxidoreductase: structure, function, and pathology of diseases","volume":"138","author":"Pandey","year":"2013","journal-title":"Pharmacol Ther."},{"issue":"19","key":"2021122102220862700_CIT0003","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1056\/NEJM198511073131903","article-title":"Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. 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