{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T20:26:22Z","timestamp":1779913582512,"version":"3.53.1"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Cancer Research for Personalized Medicine"},{"name":"Fondation ARC pour la Recherche contre le Cancer"},{"DOI":"10.13039\/501100008979","name":"Soci\u00e9t\u00e9 Fran\u00e7aise d\u2019Endocrinologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008979","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CARPEM"},{"name":"Fili\u00e8re Maladies Rares Endocriniennes"},{"name":"Agence Nationale pour la Recherche","award":["ANR-18-CE14-0008-0001"],"award-info":[{"award-number":["ANR-18-CE14-0008-0001"]}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","award":["2012_A103 and 2015_A228"],"award-info":[{"award-number":["2012_A103 and 2015_A228"]}],"id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>ARMC5 is the most prevalent gene predisposing to primary bilateral macronodular adrenal hyperplasia (PBMAH), but germline KDM1A variants have been identified in the rare PBMAH associated with food-dependent Cushing's syndrome (FDCS). The purpose of this work was to assess the frequency of KDM1A variants in a large series of PBMAH patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>A total of 301 consecutive PBMAH index cases from 8 international endocrinology departments were included. Clinical, biological, and imaging data were collected retrospectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Ten (3.3%) patients carried a germline KDM1A pathogenic or likely pathogenic variant, 60 (19.9%) carried a germline ARMC5 alteration, and 231 (76.8%) had no identified genetic predisposition. Food-dependent Cushing's syndrome was present in all patients with KDM1A variants and absent in the 2 other groups. KDM1A patients had a higher 24-h urinary free cortisol (3.0-fold upper limit of normal vs 1.36 for ARMC5 patients and 0.66 for wild-type patients, respectively, P = .0001). In accordance with FDCS pathophysiology, patients with KDM1A variants had a lower morning fasting plasma cortisol (192\u2005nmol\/L vs 407 and 428, respectively, P = .0003) and a higher midnight plasma cortisol (487\u2005nmol\/L vs 297 and 171.96, respectively, P = .0004). Morning\/midnight plasma cortisol ratio below 0.65 holds 100% sensitivity and specificity for the detection of FDCS. All patients with KDM1A variants were women, vs 65% of ARMC5 patients and 67% of wild-type patients (P = .0337).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>KDM1A germline pathogenic variants are rare in PBMAH and account for &amp;lt;5% of index cases. KDM1A seems constantly associated with FDCS, which can be evoked in front of a morning\/midnight plasma cortisol ratio below 0.65.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf016","type":"journal-article","created":{"date-parts":[[2025,2,8]],"date-time":"2025-02-08T09:49:29Z","timestamp":1739008169000},"page":"119-127","source":"Crossref","is-referenced-by-count":12,"title":["<i>KDM1A<\/i> genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype\/phenotype correlation"],"prefix":"10.1093","volume":"192","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1743-1598","authenticated-orcid":false,"given":"Lucas","family":"Bouys","sequence":"first","affiliation":[{"name":"Department of Endocrinology and National Reference Center for Rare Adrenal Diseases, H\u00f4pital Cochin, Assistance Publique 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