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A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and combined pituitary hormone deficiency (CPHD) can also be present. Whereas <jats:italic>CHD7<\/jats:italic> mutations have been identified in some patients with isolated HH without a diagnosis of CHARGE syndrome, it remains unclear whether <jats:italic>CHD7<\/jats:italic> mutations can be identified in patients with CPHD who do not fulfill the criteria for CHARGE syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 33-year-old woman was admitted to our hospital. She had primary amenorrhea and was at Tanner stage 2 for both pubic hair and breast development. She was diagnosed with CPHD (HH, growth hormone deficiency, and central hypothyroidism), and a heterozygous rare missense mutation (c.6745G\u2009&gt;\u2009A, p.Asp2249Asn) in the <jats:italic>CHD7<\/jats:italic> gene was identified. Our conservation analysis and numerous in silico analyses suggested that this mutation had pathogenic potential. She had mild intellectual disability, a minor feature of CHARGE syndrome, but did not fulfill the criteria for CHARGE syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We report a rare case of CPHD harboring <jats:italic>CHD7<\/jats:italic> mutation without CHARGE syndrome. This case provides valuable insights into phenotypes caused by <jats:italic>CHD7<\/jats:italic> mutations. <jats:italic>CHD7<\/jats:italic> mutations can have a continuous phenotypic spectrum depending on the severity of hypopituitarism and CHARGE features. Therefore, we would like to propose a novel concept of CHD7-associated syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12902-023-01373-8","type":"journal-article","created":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T04:02:47Z","timestamp":1684987367000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report"],"prefix":"10.1186","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3443-3635","authenticated-orcid":false,"given":"Yoshinari","family":"Obata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kana","family":"Takayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideyuki","family":"Nishikubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aoki","family":"Tobimatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izumi","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhei","family":"Uehara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumiko","family":"Maruo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Sho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motohiro","family":"Kosugi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1128-8834","authenticated-orcid":false,"given":"Tetsuyuki","family":"Yasuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,5,25]]},"reference":[{"key":"1373_CR1","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1038\/ng1407","volume":"36","author":"LE Vissers","year":"2004","unstructured":"Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, et al. 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