{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:49:59Z","timestamp":1790470199018,"version":"4.1.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"7","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,7]]},"abstract":"\n Biochemical characterization of primary bilateral macronodular adrenocortical hyperplasia (PBMAH) by distinct plasma steroid profiles and its putative correlation to disease has not been previously studied. LC-MS\/MS\u2013based steroid profiling of 16 plasma steroids was applied to 36 subjects (22 females, 14 males) with PBMAH, 19 subjects (16 females, 3 males) with other forms of adrenal Cushing's syndrome (ACS), and an age and sex-matched control group. Germline\n ARMC5<\/jats:italic>\n sequencing was performed in all PBMAH cases. Compared to controls, PBMAH showed increased plasma 11-deoxycortisol, corticosterone, 11-deoxycorticosterone, 18-hydroxycortisol, and aldosterone, but lower progesterone, DHEA, and DHEA-S with distinct differences in subjects with and without pathogenic variants in\n ARMC5<\/jats:italic>\n . Steroids that showed isolated differences included cortisol and 18-oxocortisol with higher (\n P<\/jats:italic>\n \u2009<\u20090.05) concentrations in ACS than in controls and aldosterone with higher concentrations in PBMAH when compared to controls. Larger differences in PBMAH than with ACS were most clear for corticosterone, but there were also trends in this direction for 18-hydroxycortisol and aldosterone. Logistic regression analysis indicated four steroids \u2013 DHEA, 11-deoxycortisol, 18-oxocortisol, and corticosterone \u2013 with the most power for distinguishing the groups. Discriminant analyses with step-wise variable selection indicated correct classification of 95.2% of all subjects of the four groups using a panel of nine steroids; correct classification of subjects with and without germline variants in\n ARMC5<\/jats:italic>\n was achieved in 91.7% of subjects with PBMAH. Subjects with PBMAH show distinctive plasma steroid profiles that may offer a supplementary single-test alternative for screening purposes.\n <\/jats:p>","DOI":"10.1530\/erc-20-0102","type":"journal-article","created":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T11:01:46Z","timestamp":1588158106000},"page":"403-413","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":28,"title":["Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia"],"prefix":"10.1530","volume":"27","author":[{"given":"Fady","family":"Hannah-Shmouni","sequence":"first","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabel","family":"Berthon","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio R","family":"Faucz","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Medina","family":"Briceno","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Gutierrez","family":"Maria","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Demidowich","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Peitzsch","sequence":"additional","affiliation":[{"name":"2Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, TechnischeUniversit\u00e4t, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jimmy","family":"Masjkur","sequence":"additional","affiliation":[{"name":"3Department of Medicine III, University Hospital Carl Gustav Carus, TechnischeUniversit\u00e4t, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fid\u00e9line","family":"Bonnet-Serrano","sequence":"additional","affiliation":[{"name":"4Departments of Endocrinology & Hormonal Biology, Cochin Hospital, INSERM U1016, CNRS 8104, Institut Cochin, Paris Descartes University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Vaczlavik","sequence":"additional","affiliation":[{"name":"4Departments of Endocrinology & Hormonal Biology, Cochin Hospital, INSERM U1016, CNRS 8104, Institut Cochin, Paris Descartes University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bertherat","sequence":"additional","affiliation":[{"name":"4Departments of Endocrinology & Hormonal Biology, Cochin Hospital, INSERM U1016, CNRS 8104, Institut Cochin, Paris Descartes University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Reincke","sequence":"additional","affiliation":[{"name":"5Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Eisenhofer","sequence":"additional","affiliation":[{"name":"2Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, TechnischeUniversit\u00e4t, Dresden, Germany"},{"name":"3Department of Medicine III, University Hospital Carl Gustav Carus, TechnischeUniversit\u00e4t, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine A","family":"Stratakis","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/27\/7\/ERC-20-0102.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/27\/7\/ERC-20-0102.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:55:39Z","timestamp":1784555739000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/27\/7\/403-413\/25476"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":0,"journal-issue":{"issue":"7"},"URL":"https:\/\/doi.org\/10.1530\/erc-20-0102","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7]]}}}