{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T18:48:22Z","timestamp":1787251702182,"version":"build-2736575974"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T00:00:00Z","timestamp":1731974400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T00:00:00Z","timestamp":1731974400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Chinese Academy of Medical Science Innovation Fund for Medical Sciences","award":["CIFMS 2021-I2M-1-003"],"award-info":[{"award-number":["CIFMS 2021-I2M-1-003"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"DOI":"10.1007\/s12020-024-04102-w","type":"journal-article","created":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T15:06:55Z","timestamp":1732028815000},"page":"1171-1181","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature"],"prefix":"10.1007","volume":"87","author":[{"given":"Ran","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xudong","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiping","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengying","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanze","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijuan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,19]]},"reference":[{"issue":"1","key":"4102_CR1","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/S0022-3476(94)70117-2","volume":"125","author":"R Lindsay","year":"1994","unstructured":"R. Lindsay et al. Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. J. Pediatr. 125(1), 29\u201335 (1994)","journal-title":"J. Pediatr."},{"issue":"6084","key":"4102_CR2","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1136\/bmj.2.6084.427","volume":"2","author":"GV Vimpani","year":"1977","unstructured":"G.V. Vimpani et al. Prevalence of severe growth hormone deficiency. Br. Med J. 2(6084), 427\u201330 (1977)","journal-title":"Br. Med J."},{"issue":"10","key":"4102_CR3","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/nrendo.2010.147","volume":"6","author":"KS Alatzoglou","year":"2010","unstructured":"K.S. Alatzoglou, M.T. Dattani, Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat. Rev. Endocrinol. 6(10), 562\u201376 (2010)","journal-title":"Nat. Rev. Endocrinol."},{"issue":"1","key":"4102_CR4","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1530\/eje.1.01797","volume":"152","author":"PE Mullis","year":"2005","unstructured":"P.E. Mullis, Genetic control of growth. Eur. J. Endocrinol. 152(1), 11\u201331 (2005)","journal-title":"Eur. J. Endocrinol."},{"issue":"10","key":"4102_CR5","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/s41574-021-00539-5","volume":"17","author":"C Hage","year":"2021","unstructured":"C. Hage et al. Advances in differential diagnosis and management of growth hormone deficiency in children. Nat. Rev. Endocrinol. 17(10), 608\u2013624 (2021)","journal-title":"Nat. Rev. Endocrinol."},{"issue":"6","key":"4102_CR6","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1210\/jcem-31-6-679","volume":"31","author":"R Illig","year":"1970","unstructured":"R. Illig, Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). J. Clin. Endocrinol. Metab. 31(6), 679\u201388 (1970)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"4","key":"4102_CR7","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s11102-007-0073-3","volume":"10","author":"LM Hern\u00e1ndez","year":"2007","unstructured":"L.M. Hern\u00e1ndez, P.D. Lee, C. Camacho-H\u00fcbner, Isolated growth hormone deficiency. Pituitary 10(4), 351\u20137 (2007)","journal-title":"Pituitary"},{"issue":"3","key":"4102_CR8","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1210\/er.2013-1067","volume":"35","author":"KS Alatzoglou","year":"2014","unstructured":"K.S. Alatzoglou et al. Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. Endocr. Rev. 35(3), 376\u2013432 (2014)","journal-title":"Endocr. Rev."},{"issue":"10","key":"4102_CR9","doi-asserted-by":"publisher","first-page":"6372","DOI":"10.1073\/pnas.78.10.6372","volume":"78","author":"JA Phillips 3rd","year":"1981","unstructured":"J.A. Phillips 3rd et al. Molecular basis for familial isolated growth hormone deficiency. Proc. Natl Acad. Sci. USA 78(10), 6372\u20135 (1981)","journal-title":"Proc. Natl Acad. Sci. USA"},{"issue":"2","key":"4102_CR10","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1210\/en.2002-220847","volume":"144","author":"L McGuinness","year":"2003","unstructured":"L. McGuinness et al. Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice. Endocrinology 144(2), 720\u201331 (2003)","journal-title":"Endocrinology"},{"issue":"3","key":"4102_CR11","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1210\/endo.141.3.7380","volume":"141","author":"MS Lee","year":"2000","unstructured":"M.S. Lee et al. Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 141(3), 883\u201390 (2000)","journal-title":"Endocrinology"},{"issue":"1","key":"4102_CR12","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1007\/s12098-011-0614-7","volume":"79","author":"KS Alatzoglou","year":"2012","unstructured":"K.S. Alatzoglou, M.T. Dattani, Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian J. Pediatr. 79(1), 99\u2013106 (2012)","journal-title":"Indian J. Pediatr."},{"issue":"3","key":"4102_CR13","doi-asserted-by":"publisher","first-page":"e59569","DOI":"10.1371\/journal.pone.0059569","volume":"8","author":"XN Zong","year":"2013","unstructured":"X.N. Zong, H. Li, Construction of a new growth references for China based on urban Chinese children: comparison with the WHO growth standards. PLoS One 8(3), e59569 (2013)","journal-title":"PLoS One"},{"issue":"5","key":"4102_CR14","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"S. Richards et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17(5), 405\u201324 (2015)","journal-title":"Genet Med."},{"issue":"1","key":"4102_CR15","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1097\/MED.0b013e32834ec952","volume":"19","author":"T Stanley","year":"2012","unstructured":"T. Stanley, Diagnosis of growth hormone deficiency in childhood. Curr. Opin. Endocrinol. Diab. Obes. 19(1), 47\u201352 (2012)","journal-title":"Curr. Opin. Endocrinol. Diab. Obes."},{"issue":"6","key":"4102_CR16","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1016\/j.beem.2016.11.002","volume":"30","author":"A Chinoy","year":"2016","unstructured":"A. Chinoy, P.G. Murray, Diagnosis of growth hormone deficiency in the paediatric and transitional age. Best. Pr. Res. Clin. Endocrinol. Metab. 30(6), 737\u2013747 (2016)","journal-title":"Best. Pr. Res. Clin. Endocrinol. Metab."},{"issue":"4","key":"4102_CR17","doi-asserted-by":"publisher","first-page":"2089","DOI":"10.1210\/jc.2004-1280","volume":"90","author":"PE Mullis","year":"2005","unstructured":"P.E. Mullis et al. Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. J. Clin. Endocrinol. Metab. 90(4), 2089\u201396 (2005)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"6","key":"4102_CR18","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1530\/eje.1.02293","volume":"155","author":"JP Turton","year":"2006","unstructured":"J.P. Turton et al. Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency. Eur. J. Endocrinol. 155(6), 793\u20139 (2006)","journal-title":"Eur. J. Endocrinol."},{"issue":"2","key":"4102_CR19","doi-asserted-by":"publisher","first-page":"52","DOI":"10.4274\/jcrpe.v2i2.52","volume":"2","author":"PE Mullis","year":"2010","unstructured":"P.E. Mullis, Genetics of isolated growth hormone deficiency. J. Clin. Res Pediatr. Endocrinol. 2(2), 52\u201362 (2010)","journal-title":"J. Clin. Res Pediatr. Endocrinol."},{"issue":"4","key":"4102_CR20","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1023\/A:1020953608174","volume":"3","author":"CT Moseley","year":"2002","unstructured":"C.T. Moseley, M.D. Orenstein, J.A. Phillips 3rd, GH Gene Deletions and IGHD type IA. Rev. Endocr. Metab. Disord. 3(4), 339\u201346 (2002)","journal-title":"Rev. Endocr. Metab. Disord."},{"issue":"3","key":"4102_CR21","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/BF01876877","volume":"32","author":"I Matsuda","year":"1987","unstructured":"I. Matsuda et al. Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion. Jinrui Idengaku Zasshi 32(3), 227\u201335 (1987)","journal-title":"Jinrui Idengaku Zasshi"},{"issue":"3","key":"4102_CR22","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1136\/jmg.27.3.151","volume":"27","author":"YA He","year":"1990","unstructured":"Y.A. He et al. A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA. J. Med. Genet 27(3), 151\u20134 (1990)","journal-title":"J. Med. Genet"},{"issue":"1","key":"4102_CR23","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1111\/j.1365-2265.2007.03157.x","volume":"69","author":"L Iughetti","year":"2008","unstructured":"L. Iughetti et al. Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene. Clin. Endocrinol. 69(1), 170\u20132 (2008)","journal-title":"Clin. Endocrinol."},{"issue":"5","key":"4102_CR24","first-page":"1224","volume":"76","author":"JD Cogan","year":"1993","unstructured":"J.D. Cogan et al. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J. Clin. Endocrinol. Metab. 76(5), 1224\u20138 (1993)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"10","key":"4102_CR25","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1515\/JPEM.2009.22.10.937","volume":"22","author":"A Coker","year":"2009","unstructured":"A. Coker et al. Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. J. Pediatr. Endocrinol. Metab. 22(10), 937\u201346 (2009)","journal-title":"J. Pediatr. Endocrinol. Metab."},{"issue":"2","key":"4102_CR26","doi-asserted-by":"publisher","first-page":"K7","DOI":"10.1530\/EJE-15-0149","volume":"175","author":"JL Madeira","year":"2016","unstructured":"J.L. Madeira et al. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD). Eur. J. Endocrinol. 175(2), K7\u2013K15 (2016)","journal-title":"Eur. J. Endocrinol."},{"issue":"4","key":"4102_CR27","doi-asserted-by":"publisher","first-page":"475","DOI":"10.4103\/0971-6866.124380","volume":"19","author":"S Vaidya","year":"2013","unstructured":"S. Vaidya et al. Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. Indian J. Hum. Genet. 19(4), 475\u20138 (2013)","journal-title":"Indian J. Hum. Genet."},{"issue":"3","key":"4102_CR28","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.ghir.2007.01.014","volume":"17","author":"G Binder","year":"2007","unstructured":"G. Binder et al. Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II). Growth Horm. IGF Res. 17(3), 242\u20138 (2007)","journal-title":"Growth Horm. IGF Res."},{"issue":"6","key":"4102_CR29","first-page":"795","volume":"120","author":"JE Toublanc","year":"1989","unstructured":"J.E. Toublanc et al. The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency. Acta Endocrinol. 120(6), 795\u20139 (1989)","journal-title":"Acta Endocrinol."},{"issue":"5","key":"4102_CR30","doi-asserted-by":"publisher","first-page":"1900","DOI":"10.1210\/jcem.86.5.7439","volume":"86","author":"G Saggese","year":"2001","unstructured":"G. Saggese et al. The effect of administering gonadotropin-releasing hormone agonist with recombinant-human growth hormone (GH) on the final height of girls with isolated GH deficiency: results from a controlled study. J. Clin. Endocrinol. Metab. 86(5), 1900\u20134 (2001)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"4102_CR31","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1210\/jc.2002-020269","volume":"88","author":"OV Fofanova","year":"2003","unstructured":"O.V. Fofanova et al. A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. J. Clin. Endocrinol. Metab. 88(2), 820\u20136 (2003)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"4","key":"4102_CR32","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.siny.2018.02.006","volume":"23","author":"TR Lewis","year":"2018","unstructured":"T.R. Lewis et al. Genetics of the patent ductus arteriosus (PDA) and pharmacogenetics of PDA treatment. Semin. Fetal Neonatal Med. 23(4), 232\u2013238 (2018)","journal-title":"Semin. Fetal Neonatal Med."},{"issue":"3","key":"4102_CR33","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1007\/s12576-011-0133-3","volume":"61","author":"MH Jin","year":"2011","unstructured":"M.H. Jin et al. DNA microarray profiling identified a new role of growth hormone in vascular remodeling of rat ductus arteriosus. J. Physiol. Sci. 61(3), 167\u201379 (2011)","journal-title":"J. Physiol. Sci."},{"issue":"12","key":"4102_CR34","doi-asserted-by":"publisher","first-page":"2916","DOI":"10.1002\/ajmg.a.37340","volume":"167a","author":"CA Morris","year":"2015","unstructured":"C.A. Morris et al. 7q11.23 Duplication syndrome: Physical characteristics and natural history. Am. J. Med. Genet A 167a(12), 2916\u201335 (2015)","journal-title":"Am. J. Med. Genet A"}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-024-04102-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-024-04102-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-024-04102-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T09:21:46Z","timestamp":1740129706000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-024-04102-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,19]]},"references-count":34,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,3]]}},"alternative-id":["4102"],"URL":"https:\/\/doi.org\/10.1007\/s12020-024-04102-w","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3797196\/v1","asserted-by":"object"}]},"ISSN":["1559-0100"],"issn-type":[{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,19]]},"assertion":[{"value":"23 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the Peking Union Medical College Hospital (I-22PJ2212).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was obtained from all parents of individual patients.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors affirm that human research participants provided informed consent for publication of the images in Fig.\n                      \n                      and Fig.\n                      \n                      .","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}]}}