{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T07:29:21Z","timestamp":1784618961334,"version":"3.55.0"},"reference-count":79,"publisher":"Georg Thieme Verlag KG","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Food-dependent Cushing\u2019s syndrome (FDCS) is a rare presentation of\n                    hypercortisolism from adrenal origin, mostly observed in primary bilateral\n                    macronodular adrenal hyperplasia (PBMAH) but also in some cases of unilateral\n                    adrenocortical adenoma. FDCS is mediated by the aberrant expression of\n                    glucose-dependent insulinotropic peptide (GIP) receptor (GIPR) in adrenocortical\n                    cells. GIP, secreted by duodenal K cells after food intake, binds to its ectopic\n                    adrenal receptor, and stimulates cortisol synthesis following meals. FDCS was\n                    first described more than 35 years ago, and its genetic cause in PBMAH has been\n                    recently elucidated: KDM1A inactivation by germline heterozygous\n                    pathogenic variants is constantly associated with a loss-of-heterozygosity of\n                    the short arm of chromosome 1, containing the KDM1A locus. This causes\n                    biallelic inactivation of KDM1A, resulting in the GIPR overexpression in\n                    the adrenal cortex. These new insights allow us to propose the KDM1A\n                    genetic screening to all PBMAH patients with signs of FDCS (low fasting cortisol\n                    that increases after a mixed meal or oral glucose load) and to all first-degree\n                    relatives of KDM1A variant carriers. Given that KDM1A is a tumor\n                    suppressor gene that has also been associated with monoclonal gammopathy of\n                    uncertain significance and multiple myeloma, the investigation of FDCS in the\n                    diagnostic management of patients with PBMAH and further genetic testing and\n                    screening for malignancies should be encouraged.<\/jats:p>","DOI":"10.1055\/a-2359-8051","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T22:49:21Z","timestamp":1722034161000},"page":"697-704","source":"Crossref","is-referenced-by-count":7,"title":["From the First Case Reports to KDM1A Identification: 35 Years\n                    of Food (GIP)-Dependent Cushing\u2019s Syndrome"],"prefix":"10.1055","volume":"132","author":[{"given":"Lucas","family":"Bouys","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and National Reference Center for Rare\n                    Adrenal Diseases, H\u00f4pital Cochin, Assistance Publique H\u00f4pitaux de Paris, 27 rue\n                    du Faubourg Saint-Jacques, F-75014, Paris, France"},{"name":"Genomics and Signaling of Endocrine Tumors, Institut Cochin, INSERM\n                    U1016, CNRS UMR 8104, Universit\u00e9 Paris-Cit\u00e9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bertherat","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and National Reference Center for Rare\n                    Adrenal Diseases, H\u00f4pital Cochin, Assistance Publique H\u00f4pitaux de Paris, 27 rue\n                    du Faubourg Saint-Jacques, F-75014, Paris, France"},{"name":"Genomics and Signaling of Endocrine Tumors, Institut Cochin, INSERM\n                    U1016, CNRS UMR 8104, Universit\u00e9 Paris-Cit\u00e9"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,7,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1210\/edrv.22.1.0420","article-title":"Ectopic and abnormal hormone receptors in adrenal Cushing\u2019s syndrome","volume":"22","author":"A Lacroix","year":"2001","journal-title":"Endocr Rev"},{"key":"ref2","first-page":"530","article-title":"Cushing syndrome with food-dependent periodic hormonogenesis","volume":"10","author":"P Hamet","year":"1987","journal-title":"Clin Invest Med"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1016\/j.gim.2021.09.018","article-title":"KDM1A inactivation causes hereditary food-dependent Cushing syndrome","volume":"24","author":"A Vaczlavik","year":"2022","journal-title":"Genet Med"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/S2213-8587(21)00236-9","article-title":"Loss of 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implications of LH\/hCG receptors in pregnancy-induced Cushing\n                    syndrome","volume":"1","author":"U Pl\u00f6ckinger","year":"2017","journal-title":"J Endocr Soc"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"2930","DOI":"10.1210\/jc.2009-0516","article-title":"Clinical and genetic heterogeneity, overlap with other tumor syndromes, and\n                    atypical glucocorticoid hormone secretion in adrenocorticotropin-independent\n                    macronodular adrenal hyperplasia compared with other adrenocortical tumors","volume":"94","author":"H-P Hsiao","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1530\/EJE-10-0195","article-title":"Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: A\n                    frequent finding in a prospective study of 32 patients with overt or subclinical\n                    Cushing\u2019s syndrome","volume":"163","author":"R Lib\u00e9","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1186\/1750-1172-8-142","article-title":"ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent\n                    aberrant in vivo and in vitro responses to hormonal stimuli and coupling of\n                    arginine-vasopressin type 1a receptor to 11\u03b2-hydroxylase","volume":"8","author":"J Hofland","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"3531","DOI":"10.1210\/jcem.85.10.6865","article-title":"Are ectopic or abnormal membrane hormone receptors frequently present in adrenal\n                    Cushing\u2019s syndrome?","volume":"85","author":"H Mircescu","year":"2000","journal-title":"J Clin Endocrinol 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