{"id":"https://openalex.org/W4409586935","doi":"https://doi.org/10.1007/s42000-025-00659-x","title":"A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature","display_name":"A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature","publication_year":2025,"publication_date":"2025-04-18","ids":{"openalex":"https://openalex.org/W4409586935","doi":"https://doi.org/10.1007/s42000-025-00659-x","pmid":"https://pubmed.ncbi.nlm.nih.gov/40249464"},"language":"en","primary_location":{"id":"doi:10.1007/s42000-025-00659-x","doi":"https://doi.org/10.1007/s42000-025-00659-x","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s42000-025-00659-x","pdf_url":null,"source":{"id":"https://openalex.org/S4210218853","display_name":"HORMONES","issn_l":"1109-3099","issn":["1109-3099","2520-8721"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hormones","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088954507","display_name":"O. Gungor","orcid":"https://orcid.org/0000-0002-6479-380X","observed_orcids":["https://orcid.org/0000-0002-6479-380X"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"\u00d6zge G\u00fcng\u00f6r","raw_affiliation_strings":["Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye. gungorozg@gmail.com"],"raw_orcid":"https://orcid.org/0000-0002-6479-380X","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye. gungorozg@gmail.com","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5117208914","display_name":"Sena Yeral","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263245","display_name":"Gaziantep \u015eehir Hastanesi","ror":"https://ror.org/04ak60v12","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4405263245"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Sena Yeral","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Department of Internal Medicine, Gaziantep City Hospital, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Gaziantep City Hospital, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I4405263245"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069823389","display_name":"B\u00fc\u015fra \u00d6zcan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"B\u00fc\u015fra \u00d6zcan","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University School of Medicine, Izmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University School of Medicine, Izmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069150441","display_name":"Duygu Ar\u0131can","orcid":"https://orcid.org/0000-0003-2545-4669","observed_orcids":["https://orcid.org/0000-0003-2545-4669"]},"institutions":[{"id":"https://openalex.org/I4210132607","display_name":"Diyarbak\u0131r Gazi Ya\u015fargil E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/03f2jcq85","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210132607"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Duygu Ar\u0131can","raw_affiliation_strings":["Department of Medical Genetics, Gazi Ya\u015fargil Training and Research Hospital, Diyarbak\u0131r, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Gazi Ya\u015fargil Training and Research Hospital, Diyarbak\u0131r, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210132607"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021982827","display_name":"\u0130lg\u0131n Y\u0131ld\u0131r\u0131m \u015eim\u015fir","orcid":"https://orcid.org/0000-0002-6801-8499","observed_orcids":["https://orcid.org/0000-0002-6801-8499"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ilg\u0131n Y\u0131ld\u0131r\u0131m \u015eim\u015fir","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University School of Medicine, Izmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University School of Medicine, Izmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054635648","display_name":"Haluk Ak\u0131n","orcid":"https://orcid.org/0000-0003-1733-5555","observed_orcids":["https://orcid.org/0000-0003-1733-5555"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Haluk Ak\u0131n","raw_affiliation_strings":["Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086745207","display_name":"Ay\u00e7a Aykut","orcid":"https://orcid.org/0000-0002-1460-0053","observed_orcids":["https://orcid.org/0000-0002-1460-0053"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u00e7a Aykut","raw_affiliation_strings":["Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010486101","display_name":"Asude Durmaz","orcid":"https://orcid.org/0000-0002-4109-9401","observed_orcids":["https://orcid.org/0000-0002-4109-9401"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Asude Durmaz","raw_affiliation_strings":["Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Ege University School of Medicine, Izmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I41641357"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5088954507"],"corresponding_institution_ids":["https://openalex.org/I41641357"],"apc_list":{"value":2390,"currency":"USD","value_usd":2390},"apc_paid":null,"fwci":1.0175,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.73402564,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":95},"biblio":{"volume":"24","issue":"3","first_page":"835","last_page":"841"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.9711999893188477,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.9711999893188477,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00800000037997961,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.004399999976158142,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/glucocorticoid-receptor","display_name":"glucocorticoid receptor","score":0.9190000295639038},{"id":"https://openalex.org/keywords/nr3c1","display_name":"NR3C1","score":0.9160000085830688},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.7620000243186951},{"id":"https://openalex.org/keywords/n-terminal-domain","display_name":"N-terminal domain","score":0.9079999923706055},{"id":"https://openalex.org/keywords/hypothalamic-pituitary-adrenal-axis","display_name":"hypothalamic-pituitary-adrenal axis","score":0.4620000123977661},{"id":"https://openalex.org/keywords/acth","display_name":"ACTH","score":0.5170000195503235},{"id":"https://openalex.org/keywords/low-dose-dexamethasone-suppression-test","display_name":"low-dose dexamethasone suppression test","score":0.8650000095367432},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.7379999756813049},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.9160000085830688}],"concepts":[{"id":"https://openalex.org/C59493245","wikidata":"https://www.wikidata.org/wiki/Q14877410","display_name":"Glucocorticoid receptor","level":3,"score":0.7387726902961731},{"id":"https://openalex.org/C2780841215","wikidata":"https://www.wikidata.org/wiki/Q422549","display_name":"Glucocorticoid","level":2,"score":0.7209758758544922},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5032169222831726},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42721283435821533},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3452960252761841},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3278147578239441},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.23812052607536316}],"mesh":[{"descriptor_ui":"D004351","descriptor_name":"Drug Resistance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005938","descriptor_name":"Glucocorticoids","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011965","descriptor_name":"Receptors, Glucocorticoid","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D011965","descriptor_name":"Receptors, Glucocorticoid","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s42000-025-00659-x","doi":"https://doi.org/10.1007/s42000-025-00659-x","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s42000-025-00659-x","pdf_url":null,"source":{"id":"https://openalex.org/S4210218853","display_name":"HORMONES","issn_l":"1109-3099","issn":["1109-3099","2520-8721"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hormones","raw_type":"journal-article"},{"id":"pmid:40249464","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40249464","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hormones (Athens, Greece)","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W1723187988","https://openalex.org/W1968680063","https://openalex.org/W1991727114","https://openalex.org/W2012324003","https://openalex.org/W2021964084","https://openalex.org/W2029415447","https://openalex.org/W2119963782","https://openalex.org/W2121287057","https://openalex.org/W2152123169","https://openalex.org/W2163597772","https://openalex.org/W2611141167","https://openalex.org/W2775823555","https://openalex.org/W2800731591","https://openalex.org/W2889289357","https://openalex.org/W2911829707","https://openalex.org/W2967027447","https://openalex.org/W2990614114","https://openalex.org/W3038383902","https://openalex.org/W4283311955","https://openalex.org/W4390512994"],"related_works":["https://openalex.org/W3038383902","https://openalex.org/W4404815785","https://openalex.org/W4390512994","https://openalex.org/W4406759342","https://openalex.org/W2889289357","https://openalex.org/W4387379126","https://openalex.org/W4394617518","https://openalex.org/W7170589597","https://openalex.org/W2106370522","https://openalex.org/W1531743772"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2025-04-19T00:00:00"}
