{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:13Z","timestamp":1753883533867,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"vor","delay-in-days":15,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Despite tall stature being a characteristic feature of Klinefelter syndrome, occasional cases of short stature have been reported. These cases are often attributed to GH deficiency. This case report details a unique case of a 16-year-old male with Klinefelter syndrome exhibiting proportionate short stature resulting from a heterozygous, likely pathogenic, variant in the ACAN gene c.7141G &amp;gt; A (p.Asp2381Asn). This specific variant, previously identified once in a family with a recessive inheritance pattern is reported here for the first time in an individual with Klinefelter syndrome. This report emphasizes the importance of a thorough evaluation and consideration of genetic testing for an underlying diagnosis in short-statured individuals with Klinefelter syndrome. Timely detection would enable appropriate therapeutic interventions.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae170","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T08:55:11Z","timestamp":1727945711000},"source":"Crossref","is-referenced-by-count":0,"title":["Short Stature in Klinefelter Syndrome From Aggrecan Mutation"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9180-9691","authenticated-orcid":false,"given":"Antoinette","family":"Farrell","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Connecticut School of Medicine , Hartford, CT 06106 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunitha R","family":"Sura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Connecticut School of Medicine, Hartford , CT 06106 ,","place":["USA"]},{"name":"Division of Pediatric Endocrinology & Diabetes, Connecticut Children's , Farmington, CT 06032 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,10,3]]},"reference":[{"issue":"1","key":"2024101805243009000_luae170-B1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1210\/jc.2012-2382","article-title":"Clinical review: klinefelter syndrome\u2013a clinical update","volume":"98","author":"Groth","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2024101805243009000_luae170-B2","doi-asserted-by":"crossref","first-page":"187","DOI":"10.4274\/jcrpe.1225","article-title":"An unusual combination of klinefelter syndrome and growth hormone deficiency in a prepubertal child","volume":"6","author":"Ramesh","year":"2014","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"1","key":"2024101805243009000_luae170-B3","doi-asserted-by":"crossref","first-page":"e253799","DOI":"10.1136\/bcr-2022-253799","article-title":"Short stature, cubitus 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spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis","volume":"77","author":"Gleghorn","year":"2005","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2024101805243009000_luae170-B10","doi-asserted-by":"crossref","first-page":"e2103","DOI":"10.1210\/clinem\/dgab904","article-title":"Treatment of short stature in aggrecan-deficient patients with recombinant human growth hormone: 1-year response","volume":"107","author":"Muthuvel","year":"2022","journal-title":"J Clin Endocrinol Metab"}],"container-title":["JCEM Case 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