{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:46Z","timestamp":1753883566480,"version":"3.41.2"},"reference-count":26,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T00:00:00Z","timestamp":1593216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The contiguous gene deletion syndrome of congenital adrenal hyperplasia and Ehlers-Danlos syndrome, named CAH-X, is a rare entity that occurs because of a deletion of a chromosomal area containing 2 neighboring genes, TNXB and CYP21A. Here, we describe a patient from a consanguineous family in which coincidentally MEN-1 syndrome is associated with CAH-X, causing particular challenges explaining the phenotypic features of the patient. A 33-year-old man with salt-wasting congenital adrenal hyperplasia and classic-like Ehlers-Danlos syndrome presented with an adrenal crisis with a history of recurrent hypoglycemia, abdominal pain, and vomiting. He was found to have primary hyperparathyroidism, hyperprolactinemia, and pancreatic neuroendocrine tumors, as well as primary hypogonadism, large adrenal myelolipomas, and low bone mineral density. A bladder diverticulum was incidentally found. Genetic analysis revealed a heterozygous previously well-described MEN1 mutation (c.784-9G\u2005&amp;gt;\u2005A), a homozygous complete deletion of CYP21A2 (c.1-?_1488+? del), as well as a large deletion of the neighboring TNXB gene (c.11381-?_11524+?). The deletion includes the complete CYP21A2 gene and exons 35 through 44 of the TNXB gene. CGH array found 12% homozygosity over the whole genome. This rare case illustrates a complex clinical scenario with some initial diagnostic challenges.<\/jats:p>","DOI":"10.1210\/jendso\/bvaa077","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T16:04:43Z","timestamp":1593273883000},"source":"Crossref","is-referenced-by-count":4,"title":["Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X)"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7719-4729","authenticated-orcid":false,"given":"Stanley M","family":"Chen Cardenas","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Diabetes, and Metabolism. The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samer","family":"El-Kaissi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ola","family":"Jarad","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muneezeh","family":"Liaqat","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine Institute, Cleveland Clinic Abu Dhabi and National Reference Laboratory, Abu Dhabi, UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4101-9432","authenticated-orcid":false,"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8832-9385","authenticated-orcid":false,"given":"Amir H","family":"Hamrahian","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes, and Metabolism. The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2020,6,27]]},"reference":[{"key":"2020081103471319200_CIT0001","first-page":"2","article-title":"Ehlers-Danlos syndrome","volume":"17","author":"Burch","year":"1997","journal-title":"Nat Genet."},{"issue":"1","key":"2020081103471319200_CIT0002","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/ajmg.c.31550","article-title":"The Ehlers-Danlos syndromes, rare types","volume":"175","author":"Brady","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet."},{"issue":"5","key":"2020081103471319200_CIT0003","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1159\/000481911","article-title":"Tenascin-X, congenital adrenal hyperplasia, and the CAH-X syndrome","volume":"89","author":"Miller","year":"2018","journal-title":"Horm Res Paediatr."},{"issue":"2-3","key":"2020081103471319200_CIT0004","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ejmg.2013.12.004","article-title":"Transforming growth factor-\u03b2 (TGF-\u03b2) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome","volume":"57","author":"Morissette","year":"2014","journal-title":"Eur J Med Genet."},{"issue":"11","key":"2020081103471319200_CIT0005","doi-asserted-by":"crossref","first-page":"8584","DOI":"10.1074\/jbc.M112.341958","article-title":"Impaired transforming growth factor-\u03b2 (TGF-\u03b2) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1)","volume":"287","author":"Canaff","year":"2012","journal-title":"J Biol Chem."},{"issue":"11","key":"2020081103471319200_CIT0006","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/S2213-8587(15)00043-1","article-title":"Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with MEN1","volume":"3","author":"Yates","year":"2015","journal-title":"Lancet Diabetes Endocrinol."},{"issue":"9","key":"2020081103471319200_CIT0007","doi-asserted-by":"crossref","first-page":"1824","DOI":"10.1002\/1097-0142(19860501)57:9<1824::AID-CNCR2820570920>3.0.CO;2-Q","article-title":"Pancreatic lesions and hormonal profile of pancreatic tumors in multiple endocrine neoplasia type I. 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