{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T10:17:28Z","timestamp":1784197048670,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T00:00:00Z","timestamp":1686268800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:sec><jats:title>Key Clinical Message<\/jats:title><jats:p>Empty sella syndrome is a complex syndrome with a diverse clinical presentation. The combination with functional hypogonadotropic hypogonadism is a real challenge for the clinician. Mutations in the CHD7 gene could be a possible, yet unproven, cause of \u201cempty sella\u201d syndrome. Patients with hypogonadotropic hypogonadism should be examined for possible CHD7 mutations, even if they do not have any CHARGE syndrome characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>Empty sella is an anatomo\u2010radiological finding characterized by arachnoid herniation into the sellar fossa with reduction of pituitary volume and\/or pituitary stalk compression). We report a clinical case of 35\u2010year\u2010old identical male twins, admitted to the clinic of endocrinology and metabolic diseases with history of infertility, hormonal constellation of hyposomatotropism and hypogonadotropic hypogonadism. The patients presented with hyposmia. Magnetic resonance imaging (MRI) of the hypothalamic\u2013pituitary region revealed the presence of partial empty sella. <jats:italic>CHD7<\/jats:italic> gene variant was observed on genetic testing. <jats:italic>CHD7<\/jats:italic> gene mutation was considered as a possible reason for the presence of central hypogonadism and yet unproven genetic cause of \u201cempty sella\u201d syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ccr3.7492","type":"journal-article","created":{"date-parts":[[2023,6,10]],"date-time":"2023-06-10T04:04:02Z","timestamp":1686369842000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare <i>CHD7<\/i> gene variant"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8718-533X","authenticated-orcid":false,"given":"Sava","family":"Petrov","sequence":"first","affiliation":[{"name":"Department of Endocrinology Medical University of Plovdiv  Plovdiv Bulgaria"},{"name":"Clinic of Endocrinology and Metabolic Diseases \"St. George\" University Hospital  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Babadzhanova","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medical University of Plovdiv  Plovdiv Bulgaria"},{"name":"Clinic of Endocrinology and Metabolic Diseases \"St. George\" University Hospital  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Orbetzova","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medical University of Plovdiv  Plovdiv Bulgaria"},{"name":"Clinic of Endocrinology and Metabolic Diseases \"St. George\" University Hospital  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hristo","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics Medical University of Plovdiv  Plovdiv Bulgaria"},{"name":"Department of Medical Genetics \"St. George\" University Hospital  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/head.13987"},{"issue":"1","key":"e_1_2_10_3_1","first-page":"46","article-title":"Candidate genes of empty Sella","volume":"1","author":"Sharavii VB","year":"2021","journal-title":"Psychiatr Neurol"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1986.tb03255.x"},{"key":"e_1_2_10_5_1","article-title":"A large PROP1 gene deletion in a Turkish pedigree","volume":"2018","author":"Gorar S","year":"2018","journal-title":"Case Rep Endocrinol"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0505"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1590\/s1677-5538.ibju.2021.0724"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1372"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31585"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1417438111"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2017.10.012"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dev158"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.770680"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-38178-y"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-007-0043-9"},{"key":"e_1_2_10_17_1","first-page":"1","article-title":"Genetic etiology of idiopathic hypogonadotropic hypogonadism","volume":"3","author":"Topaloglu AK","year":"2022","journal-title":"Endocrine"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.7492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T16:01:22Z","timestamp":1692547282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.7492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/ccr3.7492"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.7492","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"2023-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e7492"}}