{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T10:22:42Z","timestamp":1776421362784,"version":"3.51.2"},"reference-count":53,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T00:00:00Z","timestamp":1732752000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Inserm","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007241","name":"Universit\u00e9 Paris-Saclay","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007241","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ITMO Cancer of Aviesan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Primary generalized glucocorticoid resistance syndrome (GGRS) is a rare endocrine disease caused by loss-of-function variants of the NR3C1 gene encoding the glucocorticoid receptor (GR).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We describe a novel heterozygous missense variant (NM_000176.3, c.1330T&amp;gt;G, p.Phe444Val) within the DNA-binding domain.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Clinical Case<\/jats:title>\n                  <jats:p>Elevated urinary free cortisol levels were detected in a 59-year-old male patient before bariatric surgery (body mass index 39.9\u2005kg\/m2). Early-onset hypertension was well controlled. The low-dose dexamethasone suppression test was pathologic, but ACTH and midnight salivary cortisol levels were normal. The patient was initially referred to transsphenoidal surgery for a presumed diagnosis of Cushing disease. He presented to our department at the age of 68, when the clinical diagnosis of GGRS was established.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Functional characterization of the variant was performed ex vivo through transient transfection assays in HEK 293T cells to assess transcriptional activity and nuclear translocation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The variant showed a lack of transcriptional activity (GRWT: 91.5 [80.5; 101.2] vs GRF444V: 1.0 [1.0; 1.0]) despite efficient nuclear translocation in response to dexamethasone, suggesting a DNA binding defect of the variant. These results are discussed in the light of previously reported GGRS cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We have described a novel heterozygous mutation of the NR3C1 gene associated with primary GGRS. This case highlights the importance of raising awareness of clinical and laboratory features of this rare disorder, to enable early diagnosis and avoid unnecessary and potentially dangerous diagnostic and therapeutic procedures.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae829","type":"journal-article","created":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T11:24:40Z","timestamp":1732793080000},"page":"e2621-e2630","source":"Crossref","is-referenced-by-count":3,"title":["Characterization of a Novel Variant in the <i>NR3C1<\/i> Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome"],"prefix":"10.1210","volume":"110","author":[{"given":"Margaux","family":"Laulh\u00e9","sequence":"first","affiliation":[{"name":"Physiologie et Physiopathologie Endocriniennes, Universit\u00e9 Paris-Saclay, Inserm , Le Kremlin-Bic\u00eatre 94276 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Yacobi Bach","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology, Diabetes, Metabolism and Hypertension, Tel Aviv Sourasky Medical Center , Tel Aviv 6423906 ,","place":["Israel"]},{"name":"Genetics Institute, Tel Aviv Sourasky Medical Center , Tel Aviv 6423906 ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Perrot","sequence":"additional","affiliation":[{"name":"Physiologie et Physiopathologie Endocriniennes, Universit\u00e9 Paris-Saclay, Inserm , Le Kremlin-Bic\u00eatre 94276 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Gershinsky","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Lady Davis Carmel Medical Center and Linn Medical Center, Clalit Health Services , Haifa 3515210 ,","place":["Israel"]},{"name":"Ruth and Bruce Rappaport Faculty of Medicine, Technion\u2014Israel Institute of Technology , Haifa 32000 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Endocriniennes, Universit\u00e9 Paris-Saclay, Inserm , Le Kremlin-Bic\u00eatre 94276 ,","place":["France"]},{"name":"Service d\u2019Endocrinologie et des Maladies de la Reproduction, H\u00f4pital Bic\u00eatre GHU APHP Paris-Saclay , Le Kremlin-Bic\u00eatre 94270 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Say","family":"Viengchareun","sequence":"additional","affiliation":[{"name":"Physiologie et Physiopathologie Endocriniennes, Universit\u00e9 Paris-Saclay, Inserm , Le Kremlin-Bic\u00eatre 94276 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laetitia","family":"Martinerie","sequence":"additional","affiliation":[{"name":"Physiologie et Physiopathologie Endocriniennes, Universit\u00e9 Paris-Saclay, Inserm , Le Kremlin-Bic\u00eatre 94276 ,","place":["France"]},{"name":"Endocrinologie P\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement, H\u00f4pital Universitaire Robert-Debr\u00e9 GHU APHP Nord , Paris 75019 ,","place":["France"]},{"name":"Department of Pediatric Endocrinology, Universit\u00e9 Paris-Cit\u00e9, Facult\u00e9 de Sant\u00e9, UFR de M\u00e9decine , Paris 75019 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4923-488X","authenticated-orcid":false,"given":"Yona","family":"Greenman","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology, Diabetes, Metabolism and Hypertension, Tel Aviv Sourasky Medical Center , Tel Aviv 6423906 ,","place":["Israel"]},{"name":"Faculty of Medical & Health Sciences, Tel Aviv University , Tel Aviv 6997801 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