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Here we report a novel mutation of CHD7 gene in a patient with KS, which may contribute to the better understanding of KS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 29-year-old male patient with KS and a chief complaint of delayed puberty for 13\u2009years (Tanner B Stage&lt;\u20094) was admitted to the Department of Endocrinology of the First Affiliated Hospital of Zhejiang University (Hangzhou, China) in September 2019. Dual-energy X-ray absorptiometry (DEXA) showed low bone density in both lumbar spine (L1\u2009~\u2009L5 mean Z-score\u2009\u2212\u20093.0) and femoral neck (Z-score\u2009\u2212\u20092.7). Dynamic contrast-enhanced magnetic resonance imaging (MRI) of pituitary and contrast-enhanced computed tomography (CT) showed no abnormal findings. Ophthalmological evaluation showed that his both eyes showed exotropia, and no sight loss was noted. Heterozygous c.1619G\u2009&gt;\u2009T mutation of TCD7 gene (p.G4856V) was detected, whereas none of his family members had this mutation. Human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) were injected for three times\/week to treat idiopathic hypogonadotropic hypogonadism (IHH). After several months of therapy, the patient\u2019s health condition improved. His testicles became larger, and his secondary sexual characteristics improved after treatment.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Exploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12902-021-00836-0","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T18:02:33Z","timestamp":1632592953000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Weiwei","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weibin","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoping","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengqin","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2665-3395","authenticated-orcid":false,"given":"Jianguo","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,25]]},"reference":[{"issue":"10","key":"836_CR1","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1038\/nrendo.2009.177","volume":"5","author":"SD Bianco","year":"2009","unstructured":"Bianco SD, Kaiser UB. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol. 2009;5(10):569\u201376. https:\/\/doi.org\/10.1038\/nrendo.2009.177.","journal-title":"Nat Rev Endocrinol"},{"issue":"3","key":"836_CR2","doi-asserted-by":"publisher","first-page":"R55","DOI":"10.1530\/EJE-17-0749","volume":"178","author":"L Maione","year":"2018","unstructured":"Maione L, Dwyer AA, Francou B, Guiochon-Mantel A, Binart N, Bouligand J, et al. GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. Eur J Endocrinol. 2018;178(3):R55\u201355R80. https:\/\/doi.org\/10.1530\/EJE-17-0749.","journal-title":"Eur J Endocrinol"},{"key":"836_CR3","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.metabol.2017.10.012","volume":"86","author":"MI Stamou","year":"2018","unstructured":"Stamou MI, Georgopoulos NA. 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This study was carried out in accordance with the Helsinki Declaration and approved by the Ethics Committee of the First Affiliated Hospital, College of Medicine, Zhejiang University. Written informed consent was obtained from all participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publish has been obtained from the patient and his family in this case report and study participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"193"}}