{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T06:07:58Z","timestamp":1655878078589},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"7-8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS.<\/jats:p>","DOI":"10.1515\/jpem-2014-0405","type":"journal-article","created":{"date-parts":[[2015,3,4]],"date-time":"2015-03-04T17:10:56Z","timestamp":1425489056000},"source":"Crossref","is-referenced-by-count":3,"title":["Donohue syndrome: a new case with a new complication"],"prefix":"10.1515","volume":"28","author":[{"given":"Rasha","family":"Odeh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abeer","family":"Alassaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelkarim A.","family":"Al-Qudah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref41","first-page":"1","article-title":"Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene Reports","author":"Ardon","year":"2014","journal-title":"Mol Genet Metab"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1210\/er.2010-0020","article-title":"Genetic syndromes of severe insulin resistance","author":"Semple","year":"2011","journal-title":"Endocr Rev"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1007\/s00592-013-0490-x","article-title":"Six cases with severe insulin resistance SIR associated with mutations of insulin receptor : is a Bartter - 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induced diuresis due to body protein wasting in an insulin - resistant type diabetic patient","author":"Anderson","year":"2013","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0405\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:38:22Z","timestamp":1619055502000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0405\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":12,"journal-issue":{"issue":"7-8"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0405","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}