{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:34:16Z","timestamp":1780464856949,"version":"3.54.1"},"reference-count":38,"publisher":"Georg Thieme Verlag KG","issue":"08","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes."],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\nBackground The short-stature homeobox-containing gene (SHOX) is\none of the major growth genes in humans. The clinical spectrum of SHOX\nhaploinsufficiency ranges from L\u00e9ri\u2013Weill dyschondrosteosis to\nidiopathic short stature. Herein, we describe the clinical and genetic\ncharacteristics of 23 Korean patients with SHOX deficiency disorders.<\/jats:p><jats:p>\nMethods Medical records of 23 patients (19 females and 4 males) from 15\nunrelated families who were genetically confirmed to have SHOX deficiency\nwere retrospectively reviewed. SHOX gene deletions or mutations were\ndetermined by sequence analyses using multiplex ligation-dependent probe\namplification, chromosomal microarray, and\/or Sanger sequencing\nmethods.<\/jats:p><jats:p>\nResults In the 15 families, 9 probands were de novo cases. All 23\npatients showed mesomelia. Madelung deformity and tibia vara were observed in 13\n(56.5%) and 3 (13.1%) patients, respectively. Genetically, 11\n(73.3%) of the 15 families showed SHOX deletions of various\nsizes, and the other 4 families harboured SHOX sequence variants. Four\npatients had undergone orthopaedic surgeries (3 for tibia vara and 1 for\nMadelung deformity). Among 7 patients who had received growth hormone treatment\nfor \u22651 year, 5 showed good responses, with a median first-year\nchange-in-height standard deviation score of +0.6. There were no\nsignificant differences in the clinical characteristics of the deletion and\npoint mutation groups.<\/jats:p><jats:p>\nConclusions A high index of suspicion and the genetic confirmation of\nSHOX deficiency are helpful for the timely management of the\ncondition and are needed to provide genetic counselling to the family members of\nthe patients.<\/jats:p>","DOI":"10.1055\/a-1247-4863","type":"journal-article","created":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T22:57:17Z","timestamp":1600210637000},"page":"611-620","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and Genetic Characteristics of 23 Korean Patients with\nHaploinsufficiency of the Short-stature Homeobox-containing Gene"],"prefix":"10.1055","volume":"129","author":[{"given":"Jeong-Seon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\nMedicine, Seoul National University Children\u2019s Hospital,\nSeoul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hwa Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\nMedicine, Seoul National University Children\u2019s Hospital,\nSeoul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young-Ah","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\nMedicine, Seoul National University Children\u2019s Hospital,\nSeoul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seong-Young","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, SMG-SNU Boramae Medical Center,\nSeoul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae-Joon","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Seoul National University College of\nMedicine, Seoul National University Children\u2019s Hospital,\nSeoul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of\nMedicine, Seoul National University Children\u2019s Hospital,\nSeoul"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,9,15]]},"reference":[{"key":"ref1","first-page":"81","article-title":"G B. 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SHOX gene as a frequent cause of short stature: The\nessential role of a 250 kb downstream regulatory domain","volume":"46","author":"J Chen","year":"2009","journal-title":"J Med Genet"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1530\/EJE-15-0451","article-title":"The growth response to GH treatment is greater in patients with SHOX enhancer\ndeletions compared to SHOX defects","volume":"173","author":"S H Donze","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1210\/jc.2006-1409","article-title":"Growth hormone is effective in treatment of short stature associated with short\nstature homeobox-containing gene deficiency: Two-year results of a randomized,\ncontrolled, multicenter trial","volume":"92","author":"W F Blum","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1210\/jc.2009-1577","article-title":"Effectiveness of the combined recombinant human growth hormone and\ngonadotropin-releasing hormone analog therapy in pubertal patients with short\nstature due to SHOX deficiency","volume":"95","author":"R C Scalco","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000452973","article-title":"Safety outcomes and near-adult height gain of growth hormone-treated children\nwith shox deficiency: Data from an observational study and a clinical trial","volume":"87","author":"I Benabbad","year":"2017","journal-title":"Horm Res Paediatr"}],"container-title":["Experimental and Clinical Endocrinology &amp; Diabetes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1247-4863.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T22:49:42Z","timestamp":1628549382000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1247-4863"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,15]]},"references-count":38,"journal-issue":{"issue":"08","published-online":{"date-parts":[[2021,8,9]]},"published-print":{"date-parts":[[2021,8]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1247-4863","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0947-7349","1439-3646"],"issn-type":[{"value":"0947-7349","type":"print"},{"value":"1439-3646","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,15]]}}}