{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:54:58Z","timestamp":1794020098421,"version":"4.8.0"},"reference-count":110,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1016\/j.cca.2024.119994","type":"journal-article","created":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T15:50:22Z","timestamp":1728489022000},"page":"119994","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"special_numbering":"C","title":["Kallmann syndrome: Diagnostics and management"],"prefix":"10.1016","volume":"565","author":[{"given":"Rajiv","family":"Kumar Yadav","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baiyu","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianping","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaokun","family":"Gang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2481-4562","authenticated-orcid":false,"given":"Santasree","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2024.119994_b0005","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.metabol.2017.10.012","article-title":"Kallmann syndrome: Phenotype and genotype of hypogonadotropic hypogonadism","volume":"86","author":"Stamou","year":"2018","journal-title":"Metabolism"},{"key":"10.1016\/j.cca.2024.119994_b0010","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13293-024-00648-6","article-title":"Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese","volume":"15","author":"Chen","year":"2024","journal-title":"Biol. Sex Differ."},{"key":"10.1016\/j.cca.2024.119994_b0015","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.mgene.2015.12.001","article-title":"Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene","volume":"7","author":"Li","year":"2016","journal-title":"Meta. Gene."},{"key":"10.1016\/j.cca.2024.119994_b0020","doi-asserted-by":"crossref","first-page":"3019","DOI":"10.1210\/jc.2009-2582","article-title":"Congenital idiopathic hypogonadotropic hypogonadism: Evidence of defects in the hypothalamus, pituitary, and testes","volume":"95","author":"Sykiotis","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0025","doi-asserted-by":"crossref","first-page":"120","DOI":"10.4103\/aja20232","article-title":"Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism","volume":"26","author":"Wang","year":"2024","journal-title":"Asian J. Androl."},{"key":"10.1016\/j.cca.2024.119994_b0030","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1530\/EJE-19-0537","article-title":"Congenital hypogonadotropic hypogonadism\/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study","volume":"182","author":"Maione","year":"2020","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0035","doi-asserted-by":"crossref","first-page":"e2812","DOI":"10.1210\/clinem\/dgac194","article-title":"Reproductive phenotypes in men with acquired or congenital hypogonadotropic hypogonadism: A comparative study","volume":"107","author":"Maione","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0040","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.21037\/tau.2020.03.33","article-title":"Genetics of hypogonadotropic hypogonadism","volume":"10","author":"Millar","year":"2021","journal-title":"Transl. Androl. Urol."},{"key":"10.1016\/j.cca.2024.119994_b0045","first-page":"302","article-title":"Kallmann syndrome and X-linked ichthyosis caused by translocation between chromosomes X and Y: A case report","volume":"22","author":"Sait","year":"2021","journal-title":"J. Reprod. Infertil."},{"key":"10.1016\/j.cca.2024.119994_b0050","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1210\/jc.2002-021981","article-title":"X chromosome-linked Kallmann syndrome: Clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene","volume":"88","author":"Massin","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0055","article-title":"Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism","volume":"12","author":"Kim","year":"2023","journal-title":"Endocr. Connect."},{"key":"10.1016\/j.cca.2024.119994_b0060","first-page":"22","article-title":"A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome","volume":"2023","author":"Arora","year":"2023","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"10.1016\/j.cca.2024.119994_b0065","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/ajmg.a.31145","article-title":"Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers","volume":"140","author":"Chocholska","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.cca.2024.119994_b0070","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1210\/clinem\/dgac300","article-title":"Prevalence and phenotypic effects of copy number variants in isolated hypogonadotropic hypogonadism","volume":"107","author":"Stamou","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0075","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.ando.2010.02.005","article-title":"Clinical genetics of Kallmann syndrome","volume":"71","author":"Dod\u00e9","year":"2010","journal-title":"Ann. Endocrinol. (Paris)"},{"key":"10.1016\/j.cca.2024.119994_b0080","doi-asserted-by":"crossref","first-page":"e8860","DOI":"10.1002\/ccr3.8860","article-title":"A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report","volume":"12","author":"Jiang","year":"2024","journal-title":"Clin. Case Rep."},{"key":"10.1016\/j.cca.2024.119994_b0085","doi-asserted-by":"crossref","first-page":"E566","DOI":"10.1210\/jc.2010-2292","article-title":"Expanding the phenotype and genotype of female GnRH deficiency","volume":"96","author":"Shaw","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0090","doi-asserted-by":"crossref","first-page":"15965","DOI":"10.3390\/ijms242115965","article-title":"Gonadotropin-Releasing Hormone Receptor (GnRHR) and hypogonadotropic hypogonadism","volume":"24","author":"Fanis","year":"2023","journal-title":"IJMS"},{"key":"10.1016\/j.cca.2024.119994_b0095","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee, 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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2024.119994_b0100","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1186\/s12890-024-03290-5","article-title":"The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up","volume":"24","author":"Kaji","year":"2024","journal-title":"BMC Pulm. Med."},{"key":"10.1016\/j.cca.2024.119994_b0105","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1016\/j.radcr.2022.12.036","article-title":"A rare disease of Kallmann syndrome: A case report","volume":"18","author":"Hilman","year":"2023","journal-title":"Radiol. Case Rep."},{"key":"10.1016\/j.cca.2024.119994_b0110","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a005033","article-title":"Hypogonadotropic hypogonadism due to variants in RAB3GAP2: Expanding the phenotypic and genotypic spectrum of Martsolf syndrome","volume":"6","author":"Xu","year":"2020","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"10.1016\/j.cca.2024.119994_b0115","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.164324","article-title":"Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms","volume":"8","author":"Cassin","year":"2023","journal-title":"JCI Insight"},{"key":"10.1016\/j.cca.2024.119994_b0120","first-page":"152","article-title":"Study on KAL1 gene mutations in idiopathic hypogonadotropic hypogonadism patients with X-linked recessive inheritance","volume":"4","author":"Ahmadzadeh","year":"2015","journal-title":"Int. J. Mol. Cell Med."},{"key":"10.1016\/j.cca.2024.119994_b0125","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1046\/j.1365-2265.2001.01277.x","article-title":"Idiopathic gonadotrophin deficiency: Genetic questions addressed through phenotypic characterization","volume":"55","author":"Quinton","year":"2001","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"10.1016\/j.cca.2024.119994_b0130","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s12958-023-01074-w","article-title":"Mutation spectrum of Kallmann syndrome: Identification of five novel mutations across ANOS1 and FGFR1","volume":"21","author":"Chu","year":"2023","journal-title":"Reprod. Biol. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0135","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ncpendmet0119","article-title":"Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome","volume":"2","author":"Tsai","year":"2006","journal-title":"Nat. Clin. Pract. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0140","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1166132","article-title":"The initiation and maintenance of gonadotropin-releasing hormone neuron identity in congenital hypogonadotropic hypogonadism","volume":"14","author":"Chung","year":"2023","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0145","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1210\/jc.2012-3550","article-title":"Approach to the patient with hypogonadotropic hypogonadism","volume":"98","author":"Silveira","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0150","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2024.1396805","article-title":"Variety of genetic defects in GnRH and hypothalamic\u2013pituitary signaling and development in normosmic patients with IHH","volume":"15","author":"Ka\u0142u\u017cna","year":"2024","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0155","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1007\/BF03401342","article-title":"Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: A new point mutation in the KAL2 gene","volume":"13","author":"Bernal","year":"2014","journal-title":"Hormones (Athens)"},{"key":"10.1016\/j.cca.2024.119994_b0160","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s13353-014-0252-7","article-title":"Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene","volume":"56","author":"Seidler","year":"2015","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.cca.2024.119994_b0165","doi-asserted-by":"crossref","first-page":"25","DOI":"10.4274\/jcrpe.galenos.2022.2022-3-15","article-title":"Anomalies in human sex determination: Usefulness of a combined cytogenetic approach to characterize an additional case with Xp functional disomy associated with 46,XY gonadal dysgenesis","volume":"15","author":"Khouloud","year":"2023","journal-title":"Jcrpe"},{"key":"10.1016\/j.cca.2024.119994_b0170","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/bfgp\/elw037","article-title":"Group of HGNC consultants for KAL1 nomenclature. ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1","volume":"16","author":"de Castro","year":"2017","journal-title":"Brief Funct. Genomics"},{"key":"10.1016\/j.cca.2024.119994_b0175","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1007\/s00429-023-02631-0","article-title":"Extracellular matrix protein anosmin-1 overexpression alters dopaminergic phenotype in the CNS and the PNS with no pathogenic consequences in a MPTP model of Parkinson\u2019s disease","volume":"228","author":"Villadiego","year":"2023","journal-title":"Brain Struct. Funct."},{"key":"10.1016\/j.cca.2024.119994_b0180","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1056\/NEJMcp1109290","article-title":"Clinical practice-delayed puberty","volume":"366","author":"Palmert","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2024.119994_b0185","doi-asserted-by":"crossref","DOI":"10.7759\/cureus.67990","article-title":"The spectrum of hypogonadism in women from Basrah","author":"Zuhairi","year":"2024","journal-title":"Cureus"},{"key":"10.1016\/j.cca.2024.119994_b0190","doi-asserted-by":"crossref","first-page":"353","DOI":"10.3389\/fendo.2019.00353","article-title":"Psychological aspects of congenital hypogonadotropic hypogonadism","volume":"10","author":"Dwyer","year":"2019","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0195","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1093\/ejendo\/lvae027","article-title":"Hypogonadism and neurocognitive outcomes among childhood cancer survivors","volume":"190","author":"Yoshida","year":"2024","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0200","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/353529a0","article-title":"A gene deleted in Kallmann\u2019s syndrome shares homology with neural cell adhesion and axonal path-finding molecules","volume":"353","author":"Franco","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.cca.2024.119994_b0205","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2024.1423898","article-title":"Gene-environment interaction in functional hypothalamic amenorrhea","volume":"15","author":"Barbagallo","year":"2024","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0210","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0092-8674(91)90193-3","article-title":"The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules","volume":"67","author":"Legouis","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.cca.2024.119994_b0215","doi-asserted-by":"crossref","first-page":"7428","DOI":"10.3390\/ijms24087428","article-title":"Genetic analysis of patients with congenital hypogonadotropic hypogonadism: A case series","volume":"24","author":"Cannarella","year":"2023","journal-title":"IJMS"},{"key":"10.1016\/j.cca.2024.119994_b0220","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1210\/jc.2013-3426","article-title":"Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism","volume":"99","author":"Mehta","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0225","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/s41392-024-01899-w","article-title":"Therapeutic advances of targeting receptor tyrosine kinases in cancer","volume":"9","author":"Tomuleasa","year":"2024","journal-title":"Sig. Transduct. Target. Ther."},{"key":"10.1016\/j.cca.2024.119994_b0230","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment","volume":"11","author":"Boehm","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0235","doi-asserted-by":"crossref","DOI":"10.1007\/s12020-024-04032-7","article-title":"Evaluation of testicular volume in males with congenital hypogonadotropic hypogonadism: A comparative analysis","author":"Devi","year":"2024","journal-title":"Endocrine"},{"key":"10.1016\/j.cca.2024.119994_b0240","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1111\/and.12397","article-title":"Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family","volume":"47","author":"Xu","year":"2015","journal-title":"Andrologia"},{"key":"10.1016\/j.cca.2024.119994_b0245","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.1069741","article-title":"Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism","volume":"13","author":"Vezzoli","year":"2023","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0250","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1073\/pnas.90.6.2461","article-title":"Expression of the KAL gene in multiple neuronal sites during chicken development","volume":"90","author":"Legouis","year":"1993","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.cca.2024.119994_b0255","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/0303-7207(95)03518-C","article-title":"KAL, a gene mutated in Kallmann\u2019s syndrome, is expressed in the first trimester of human development","volume":"110","author":"Duke","year":"1995","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0260","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/s41581-024-00808-2","article-title":"The multifaceted links between hearing loss and chronic kidney disease","volume":"20","author":"Greenberg","year":"2024","journal-title":"Nat. Rev. Nephrol."},{"key":"10.1016\/j.cca.2024.119994_b0265","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.mce.2006.04.021","article-title":"Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes","volume":"254\u2013255","author":"Pitteloud","year":"2006","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0270","doi-asserted-by":"crossref","first-page":"426","DOI":"10.4103\/aja202366","article-title":"Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations","volume":"26","author":"Yang","year":"2024","journal-title":"Asian J. Androl."},{"key":"10.1016\/j.cca.2024.119994_b0275","doi-asserted-by":"crossref","first-page":"3770","DOI":"10.4161\/cc.8.22.10066","article-title":"Anosmin-1 involved in neuronal cell migration is hypoxia inducible and cancer regulated","volume":"8","author":"Jian","year":"2009","journal-title":"Cell Cycle"},{"key":"10.1016\/j.cca.2024.119994_b0280","article-title":"A new immune signature for survival prediction and immune checkpoint molecules in non-small cell lung cancer","volume":"13","author":"Han","year":"2023","journal-title":"Front. Oncol."},{"key":"10.1016\/j.cca.2024.119994_b0285","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/jop.12206","article-title":"Decreased expression of Kallmann syndrome 1 sequence gene (KAL1) contributes to oral squamous cell carcinoma progression and significantly correlates with poorly differentiated grade","volume":"44","author":"Liu","year":"2015","journal-title":"J. Oral. Pathol. Med."},{"key":"10.1016\/j.cca.2024.119994_b0290","doi-asserted-by":"crossref","first-page":"13059","DOI":"10.18632\/aging.205219","article-title":"Inhibition of UFM1 expression suppresses cancer progression and is linked to the dismal prognosis and immune infiltration in oral squamous cell carcinoma","volume":"15","author":"Ke","year":"2023","journal-title":"Aging"},{"key":"10.1016\/j.cca.2024.119994_b0295","doi-asserted-by":"crossref","unstructured":"S. Noorian, S. Savad, A. Khavandegar, M. Jamee, A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs*) in Kallmann Syndrome Associated Unilateral Ptosis, AACE. Clin. Case. Rep. 7 (2021) 216-219.","DOI":"10.1016\/j.aace.2021.01.007"},{"key":"10.1016\/j.cca.2024.119994_b0300","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1095\/biolreprod.110.087437","article-title":"Kallmann syndrome 1 gene is expressed in the marsupial gonad","volume":"84","author":"Hu","year":"2011","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.cca.2024.119994_b0305","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2022.836179","article-title":"Anosmin-1-like effect of UMODL1\/olfactorin on the chemomigration of mouse GnRH neurons and zebrafish olfactory axons development","volume":"10","author":"Di Schiavi","year":"2022","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.cca.2024.119994_b0310","doi-asserted-by":"crossref","first-page":"8217","DOI":"10.3390\/ijms22158217","article-title":"Mechanisms of central hypogonadism","volume":"22","author":"Barber","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.cca.2024.119994_b0315","doi-asserted-by":"crossref","unstructured":"K. Beate, N. Joseph, R. Nicolas de, K. Wolfram, Genetics of isolated hypogonadotropic hypogonadism: Role of GnRH receptor and other genes, Int. J. Endocrinol. 2012 (2012) 147893.","DOI":"10.1155\/2012\/147893"},{"key":"10.1016\/j.cca.2024.119994_b0320","doi-asserted-by":"crossref","first-page":"160","DOI":"10.4274\/jcrpe.galenos.2023.2022-10-14","article-title":"Clinical characteristics and genetic analyses of patients with idiopathic hypogonadotropic hypogonadism","volume":"15","author":"\u00c7iftci","year":"2023","journal-title":"Jcrpe"},{"key":"10.1016\/j.cca.2024.119994_b0325","doi-asserted-by":"crossref","DOI":"10.1016\/j.beem.2020.101475","article-title":"Kallman syndrome and central non-obstructive azoospermia","volume":"34","author":"Thakker","year":"2020","journal-title":"Best. Pract. Res. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0330","doi-asserted-by":"crossref","first-page":"5941","DOI":"10.1097\/MS9.0000000000001358","article-title":"Identification of a valuable gene network for the diagnosis and treatment of non-obstructive azoospermia: in-silico analyses \u2013 experimental research","volume":"85","author":"Zabihi","year":"2023","journal-title":"Ann. Med. Surg."},{"key":"10.1016\/j.cca.2024.119994_b0335","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00439-020-02147-1","article-title":"Genetics of congenital hypogonadotropic hypogonadism: Peculiarities and phenotype of an oligogenic disease","volume":"140","author":"Cangiano","year":"2021","journal-title":"Hum. Genet."},{"key":"10.1016\/j.cca.2024.119994_b0340","doi-asserted-by":"crossref","first-page":"3969","DOI":"10.1242\/dev.139444","article-title":"Development of the neurons controlling fertility in humans: New insights from 3D imaging and transparent fetal brains","volume":"143","author":"Casoni","year":"2016","journal-title":"Development"},{"key":"10.1016\/j.cca.2024.119994_b0345","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1038\/s41593-024-01724-1","article-title":"A GnRH neuronal population in the olfactory bulb translates socially relevant odors into reproductive behavior in male mice","volume":"27","author":"Decoster","year":"2024","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.cca.2024.119994_b0350","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1210\/er.2018-00116","article-title":"Clinical management of congenital hypogonadotropic hypogonadism","volume":"40","author":"Young","year":"2019","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.cca.2024.119994_b0355","doi-asserted-by":"crossref","DOI":"10.1007\/s12013-024-01537-w","article-title":"Regulatory involvement of kisspeptin in energy balance and reproduction","author":"Oyedokun","year":"2024","journal-title":"Cell Biochem. Biophys."},{"key":"10.1016\/j.cca.2024.119994_b0360","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/353529a0","article-title":"A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules","volume":"353","author":"Franco","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.cca.2024.119994_b0365","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1186\/s12864-024-10598-3","article-title":"Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism","volume":"25","author":"Zouaghi","year":"2024","journal-title":"BMC Genomics"},{"key":"10.1016\/j.cca.2024.119994_b0370","doi-asserted-by":"crossref","first-page":"E136","DOI":"10.1210\/jc.2011-2041","article-title":"Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: Pathophysiological and genetic implications","volume":"97","author":"Shpuntoff","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0375","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1007\/s00439-023-02601-w","article-title":"How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism","volume":"142","author":"Xu","year":"2023","journal-title":"Hum. Genet."},{"key":"10.1016\/j.cca.2024.119994_b0380","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/BF00441173","article-title":"Pulsatile secretion of gonadotropins in early infancy","volume":"137","author":"Waldhauser","year":"1981","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.cca.2024.119994_b0385","doi-asserted-by":"crossref","DOI":"10.1016\/j.yhbeh.2022.105230","article-title":"The roles of GnRH in the human central nervous system","volume":"145","author":"Wickramasuriya","year":"2022","journal-title":"Horm. Behav."},{"key":"10.1016\/j.cca.2024.119994_b0390","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1365-2265.2009.03687.x","article-title":"The recent genetics of hypogonadotrophic hypogonadism \u2013 novel insights and new questions","volume":"72","author":"Semple","year":"2010","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"10.1016\/j.cca.2024.119994_b0395","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s12902-022-00940-9","article-title":"Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism","volume":"22","author":"Liu","year":"2022","journal-title":"BMC Endocr. Disord."},{"key":"10.1016\/j.cca.2024.119994_b0400","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ng1122","article-title":"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome","volume":"33","author":"Dod\u00e9","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2024.119994_b0405","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2023-258042","article-title":"Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome\/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation","volume":"17","author":"Ichioka","year":"2024","journal-title":"BMJ Case Rep."},{"key":"10.1016\/j.cca.2024.119994_b0410","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000152034","article-title":"The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al","volume":"2","author":"Hardelin","year":"2008","journal-title":"Sex Dev."},{"key":"10.1016\/j.cca.2024.119994_b0415","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000152034","article-title":"The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al","volume":"2","author":"Hardelin","year":"2008","journal-title":"Sex Dev."},{"key":"10.1016\/j.cca.2024.119994_b0420","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1159\/000438841","article-title":"Genetics of hypogonadotropic hypogonadism","volume":"29","author":"Topaloglu","year":"2016","journal-title":"Endocr. Dev."},{"key":"10.1016\/j.cca.2024.119994_b0425","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1159\/000536574","article-title":"Genetic variability of SOX10-related disorders within an Italian family: Straddling the line between Kallmann and Waardenburg syndrome","volume":"15","author":"Graziani","year":"2024","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.cca.2024.119994_b0430","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1159\/000487527","article-title":"Transition of care from childhood to adulthood: Congenital hypogonadotropic hypogonadism","volume":"33","author":"Dwyer","year":"2018","journal-title":"Endocr. Dev."},{"key":"10.1016\/j.cca.2024.119994_b0435","first-page":"EDM170083","article-title":"Kallmann syndrome and ichthyosis: A case of contiguous gene deletion syndrome","volume":"2017","author":"Raso","year":"2017","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"10.1016\/j.cca.2024.119994_b0440","doi-asserted-by":"crossref","first-page":"596","DOI":"10.3389\/fgene.2020.00596","article-title":"Novel microdeletion in the X chromosome leads to Kallmann syndrome, ichthyosis, obesity, and strabismus","volume":"11","author":"Ma","year":"2020","journal-title":"Front. Genet."},{"key":"10.1016\/j.cca.2024.119994_b0445","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1007\/s43032-021-00638-8","article-title":"Advances in genetic diagnosis of Kallmann syndrome and genetic interruption","volume":"29","author":"Liu","year":"2022","journal-title":"Reprod. Sci."},{"key":"10.1016\/j.cca.2024.119994_b0450","doi-asserted-by":"crossref","first-page":"3056","DOI":"10.1210\/jc.2012-1598","article-title":"Distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: Critical appraisal of available diagnostic tests","volume":"97","author":"Harrington","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0455","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s11154-023-09868-4","article-title":"Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients","volume":"25","author":"Rey","year":"2024","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"10.1016\/j.cca.2024.119994_b0460","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2020.592831","article-title":"Kallmann syndrome due to heterozygous mutation in SOX10 coexisting with Waardenburg syndrome type II: Case report and review of literature","volume":"11","author":"Chen","year":"2021","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0465","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1210\/jc.2007-1168","article-title":"Kallmann\u2019s syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1\/KAL2 mutations","volume":"93","author":"Salenave","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0470","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1210\/clinem\/dgac615","article-title":"Reproductive phenotypes and genotypes in men with IHH","volume":"108","author":"Dwyer","year":"2023","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0475","doi-asserted-by":"crossref","first-page":"4408","DOI":"10.1210\/jc.2008-0915","article-title":"Physiological androgen insensitivity of the fetal, neonatal, and early infantile testis is explained by the ontogeny of the androgen receptor expression in Sertoli cells","volume":"93","author":"Chemes","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0480","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1093\/ejendo\/lvad166","article-title":"Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: Systematic review and meta-analysis","volume":"190","author":"Alexander","year":"2024","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0485","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1111\/j.1365-2605.1992.tb01131.x","article-title":"Therapy with human chorionic gonadotrophin alone induces spermatogenesis in men with isolated hypogonadotrophic hypogonadism\u2013long-term follow-up","volume":"15","author":"Vicari","year":"1991","journal-title":"Int. J. Androl."},{"key":"10.1016\/j.cca.2024.119994_b0490","doi-asserted-by":"crossref","unstructured":"S.M. Ulhe, D. More, M. Wanjari, Implications of Human Chorionic Gonadotropin (hCG) Therapy in a Varicocele Patient and Its Effect on In Vitro Fertilization (IVF) Outcome, Cureus (2024).","DOI":"10.7759\/cureus.54893"},{"key":"10.1016\/j.cca.2024.119994_b0495","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1530\/EC-17-0241","article-title":"Safety and tolerability of one-year intramuscular testosterone regime to induce puberty in older men with CHH","volume":"7","author":"Pazderska","year":"2018","journal-title":"Endocr. Connect."},{"key":"10.1016\/j.cca.2024.119994_b0500","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1111\/cen.12347","article-title":"Reversal of isolated hypogonadotropic hypogonadism: Long-term integrity of hypothalamo\u2013pituitary\u2013testicular axis in two men is dependent on intermittent androgen exposure","volume":"81","author":"Santhakumar","year":"2014","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"10.1016\/j.cca.2024.119994_b0505","doi-asserted-by":"crossref","first-page":"E1790","DOI":"10.1210\/jc.2013-2518","article-title":"Trial of recombinant follicle-stimulating hormone pretreatment for GnRH induced fertility in patients with congenital hypogonadotropic hypogonadism","volume":"98","author":"Dwyer","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0510","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1111\/andr.262","article-title":"Factors affecting spermatogenesis upon gonadotropin-replacement therapy: a meta-analytic study","volume":"2","author":"Rastrelli","year":"2014","journal-title":"Andrology"},{"key":"10.1016\/j.cca.2024.119994_b0515","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/cen.12435","article-title":"Assessment of quality of life during gonadotrophin treatment for male hypogonadotrophic hypogonadism","volume":"81","author":"Shiraishi","year":"2014","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"10.1016\/j.cca.2024.119994_b0520","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1210\/jc.2016-3990","article-title":"Pulsatile GnRH therapy may restore hypothalamus-pituitary-testis axis function in patients with congeni- tal combined pituitary hormone deficiency: A prospective, self- controlled trial","volume":"102","author":"Zheng","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0525","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1210\/jcem-67-6-1140","article-title":"Two-year comparison of testicular responses to pulsatile gonadotropin-releasing hormone and exogenous gonadotropins from the inception of therapy in men with isolated hypogonadotropic hypogonadism","volume":"67","author":"Liu","year":"1988","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0530","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.beem.2014.10.005","article-title":"Gonadotrophin replacement for induction of fertility in hypogonadal men","volume":"29","author":"Dwyer","year":"2015","journal-title":"Best. Pract. Res. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0535","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1111\/j.1365-2265.2008.03299.x","article-title":"Recombinant LH (lutropin alfa) for the treatment of hypogonadotrophic women with profound LH deficiency: A randomized, double-blind, placebo-controlled, proof-of-efficacy study","volume":"69","author":"Shoham","year":"2008","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"10.1016\/j.cca.2024.119994_b0540","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nrendo.2011.164","article-title":"Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism","volume":"8","author":"Bouvattier","year":"2012","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.cca.2024.119994_b0545","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.beem.2015.01.002","article-title":"Pubertal induction in hypogonadism: Current approaches including use of gonadotrophins","volume":"29","author":"Zacharin","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.cca.2024.119994_b0550","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ogc.2017.02.004","article-title":"Prenatal diagnosis: screening and diagnostic tools","volume":"44","author":"Carlson","year":"2017","journal-title":"Obs. Gyne. Clin. North Am."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898124022472?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898124022472?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T05:03:04Z","timestamp":1741064584000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898124022472"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":110,"alternative-id":["S0009898124022472"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2024.119994","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Kallmann syndrome: Diagnostics and management","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2024.119994","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"119994"}}