{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:40Z","timestamp":1784557000111,"version":"3.55.0"},"reference-count":42,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,2,1]]},"abstract":"\n Objective<\/jats:title>\n \n Heterozygous\n CHD7<\/jats:italic>\n mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with\n CHD7<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n The clinical features and endocrine findings from 30 patients with\n CHD7<\/jats:italic>\n variants were retrospectively reviewed. A diagnosis of CHARGE syndrome was based on the Verloes diagnostic criteria.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Seventeen patients fulfilled the criteria for typical CHARGE syndrome, one patient for partial\/incomplete CHARGE, and the remaining eleven patients had atypical CHARGE syndrome. One patient was diagnosed with Kallmann syndrome and unilateral deafness. The most frequently observed features were inner ear anomalies (80.0%), intellectual disability (76.7%), and external ear anomalies (73.3%). The mean height and weight SDSs at diagnosis were \u22122.6 \u00b1 1.3 and \u22122.2 \u00b1 1.8, respectively. Short stature was apparent in 18 patients (60%), and 1 patient was diagnosed with growth hormone deficiency. Seventeen males showed genital hypoplasia, including micropenis, cryptorchidism, or both. Seven patients after pubertal age had hypogonadotropic hypogonadism with hyposmia\/anosmia and olfactory bulb hypoplasia. Truncating\n CHD7<\/jats:italic>\n mutations were the most common (\n n<\/jats:italic>\n \u2009\u2009=\u200922), followed by missense variants (\n n<\/jats:italic>\n \u2009\u2009=\u20093), splice-site variants (\n n<\/jats:italic>\n \u2009\u2009=\u20092), and large deletion (\n n<\/jats:italic>\n \u2009\u2009=\u20092).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n A diverse phenotypic spectrum was observed in patients with\n CHD7<\/jats:italic>\n variants, and endocrine defects such as short stature and delayed puberty occurred in most patients. Endocrine evaluation, especially for growth and pubertal impairment, should be performed during diagnosis and follow-up to improve the patient\u2019s quality of life.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/ec-21-0522","type":"journal-article","created":{"date-parts":[[2022,1,11]],"date-time":"2022-01-11T13:22:52Z","timestamp":1641907372000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":6,"title":["Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings"],"prefix":"10.1530","volume":"11","author":[{"given":"Ja Hye","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center Children\u2019s Hospital, University of Ulsan College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunha","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center Children\u2019s Hospital, University of Ulsan College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soojin","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center Children\u2019s Hospital, University of Ulsan College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center Children\u2019s Hospital, University of Ulsan College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1196-7826","authenticated-orcid":true,"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center Children\u2019s Hospital, University of Ulsan College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"European Journal of Human Genetics","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/sj.ejhg.5201778","article-title":"CHARGE syndrome: an update","volume":"15","author":"Sanlaville","year":"2007","unstructured":"Sanlaville DVerloes A. 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