{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T03:30:28Z","timestamp":1779247828900,"version":"3.51.4"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T00:00:00Z","timestamp":1643846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T00:00:00Z","timestamp":1643846400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p><jats:italic>SOX3<\/jats:italic> is essential for pituitary development normally at the earliest stages of development. In humans, variants of <jats:italic>SOX3<\/jats:italic> can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present an 8-year-old Chinese patient with congenital hypopituitarism who had a 6.180\u00a0Mb duplication on Xq26.3q27.1 including <jats:italic>SOX3<\/jats:italic>, <jats:italic>F9<\/jats:italic>, and eight other contiguous genes. The main complains of the boy was short stature. His height was 90.1\u00a0cm (\u2212\u20095.87SDS), weight 11.5\u00a0kg (\u2212\u20095.25SDS). He developed growth hormone (GH) deficiency, cryptorchidism and low thyroid function. Pituitary magnetic resonance imaging revealed the pituitary dysplasia. After diagnosis, levothyroxine was given for one month first, and the thyroid function basically returned to normal, but the growth situation did not improve at all. Then recombinant human GH was given, his height, growth rate and height SDS were improved significantly in the 2\u00a0years follow-up. The level of height SDS improved from \u2212\u20095.87 SDS before treatment to \u2212\u20093.27 SDS after the first year of treatment and \u2212\u20091.78 SDS after the second years of treatment. Gonadal function and long-term prognosis of the patient still need further observation and follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This is the first case of Chinese male patient with multiple hypophysis dysfunction caused by <jats:italic>SOX3<\/jats:italic> duplication, which will expand the range of phenotypes observed in patients with duplication of <jats:italic>SOX3<\/jats:italic>.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01167-2","type":"journal-article","created":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T11:06:34Z","timestamp":1643886394000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up"],"prefix":"10.1186","volume":"15","author":[{"given":"Caiqi","family":"Du","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feiya","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuoguang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mini","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9009-3284","authenticated-orcid":false,"given":"Yan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,2,3]]},"reference":[{"issue":"4","key":"1167_CR1","first-page":"552","volume":"13","author":"S Stagi","year":"2014","unstructured":"Stagi S, Lapi E, Pantaleo M, Traficante G, Giglio S, Seminara S, et al. A SOX3 (Xq26.3\u201327.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review. Hormones (Athens). 2014;13(4):552\u201360.","journal-title":"Hormones (Athens)"},{"issue":"6","key":"1167_CR2","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/s11102-013-0546-5","volume":"17","author":"M Takagi","year":"2014","unstructured":"Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. Pituitary. 2014;17(6):569\u201374.","journal-title":"Pituitary"},{"issue":"Suppl 1","key":"1167_CR3","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1530\/EJE-07-0156","volume":"157","author":"D Kelberman","year":"2007","unstructured":"Kelberman D, Dattani MT. Hypothalamic and pituitary development: novel insights into the aetiology. 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All study procedures were conducted in accordance with the tenets of the Declaration of Helsinki. The patient and his parents provided written informed consent to participate in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publish this case was obtained from the patient and his parents, including case description and medical data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare that they have no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"19"}}