{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T23:06:07Z","timestamp":1783983967066,"version":"3.55.0"},"reference-count":23,"publisher":"Georg Thieme Verlag KG","issue":"07","funder":[{"name":"Ministry of Industry and Technology, Istanbul Development Agency","award":["Project No:TR10\/22\/TNH\/0001"],"award-info":[{"award-number":["Project No:TR10\/22\/TNH\/0001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Metab Res"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The purpose of this study was to describe a novel heterozygous missense\nvariant in the nuclear receptor subfamily 3 group C member 1 ligand-binding\ndomain causing primary generalized glucocorticoid resistance and highlight\ndiagnostic pitfalls that can mimic Cushing\u2019s disease.<\/jats:p>\n                  <jats:p>A 22-year-old woman was evaluated for suspected Cushing\u2019s disease after\nelevated cortisol levels and pituitary imaging findings. She underwent three\ntranssphenoidal surgeries, but hypercortisolism and clinical symptoms\nincluding hirsutism, acne, menstrual irregularities, and weight gain\npersisted. The absence of classical Cushing\u2019s stigmata prompted genetic\nevaluation, which led to the diagnosis of primary generalized glucocorticoid\nresistance.<\/jats:p>\n                  <jats:p>Whole-exome sequencing was performed in the index case. The identified\nvariant was validated by Sanger sequencing and segregation analysis was\ncarried out in her sister.<\/jats:p>\n                  <jats:p>A novel heterozygous, likely pathogenic missense variant\n(NM_000176.3:c.1940T&gt;C, p.(Leu647Pro)) in the nuclear receptor\nsubfamily 3 group C member 1 gene was detected in two siblings.<\/jats:p>\n                  <jats:p>We describe a novel nuclear receptor subfamily 3 group C member 1\nvariant associated with primary generalized glucocorticoid resistance,\nexpanding the mutational spectrum of glucocorticoid receptor defects. This\ncase underscores the importance of considering primary generalized\nglucocorticoid resistance in patients with adrenocorticotropic\nhormone-dependent hypercortisolism lacking typical Cushing\u2019s features to\nprevent unnecessary invasive procedures and guide appropriate genetic\ncounseling<\/jats:p>","DOI":"10.1055\/a-2848-7602","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T22:52:58Z","timestamp":1776379978000},"page":"253-259","source":"Crossref","is-referenced-by-count":0,"title":["Cushing\u2019s Shadow: An Overlooked Diagnosis in\nEndocrinology"],"prefix":"10.1055","volume":"58","author":[{"given":"Lala","family":"Soltanova","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of\nInternal Medicine, Istanbul University-Cerrahpasa Cerrahpasa Faculty of\nMedicine, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Sahin","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of\nInternal Medicine, Istanbul University-Cerrahpasa Cerrahpasa Faculty of\nMedicine, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yucel","family":"Erbilgin","sequence":"additional","affiliation":[{"name":"Aziz Sancar Institute of Experimental Medicine,\nDepartment of Genetics, Istanbul University, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banu Betul","family":"Kocaman","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of\nInternal Medicine, Istanbul University-Cerrahpasa Cerrahpasa Faculty of\nMedicine, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilkin","family":"Muradov","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of\nInternal Medicine, Istanbul University-Cerrahpasa Cerrahpasa Faculty of\nMedicine, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seda","family":"Duman","sequence":"additional","affiliation":[{"name":"Pathology Department, Kocaeli Universitesi Tip\nFakultesi, Izmit, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muge","family":"Sayitoglu","sequence":"additional","affiliation":[{"name":"Aziz Sancar Institute of Experimental Medicine,\nDepartment of Genetics, Istanbul University, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8329-140X","authenticated-orcid":false,"given":"Pinar","family":"Kadioglu","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of\nInternal Medicine, Istanbul University-Cerrahpasa Cerrahpasa Faculty of\nMedicine, Fatih, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.ecl.2011.01.006","article-title":"Cushing\u2019s syndrome: All variants, detection, and treatment","volume":"40","author":"S T Sharma","year":"2011","journal-title":"Endocrinol Metab Clin North Am"},{"issue":"9996","key":"ref2","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/S0140-6736(14)61375-1","article-title":"Cushing\u2019s syndrome","volume":"386","author":"A Lacroix","year":"2015","journal-title":"Lancet"},{"issue":"9522","key":"ref3","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1016\/S0140-6736(06)68699-6","article-title":"Cushing\u2019s syndrome","volume":"367","author":"J 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