{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T02:53:16Z","timestamp":1773888796656,"version":"3.50.1"},"reference-count":46,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T00:00:00Z","timestamp":1762214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PRG1021"],"award-info":[{"award-number":["PRG1021"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","fertstertreports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["F&S Reports"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1016\/j.xfre.2025.10.008","type":"journal-article","created":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T06:45:40Z","timestamp":1762584340000},"page":"4-11","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic odyssey of a male with 45,X\/46,XY mosaicism: case report and review of the literature"],"prefix":"10.1016","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9679-990X","authenticated-orcid":false,"given":"Stanislav","family":"Tjagur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margus","family":"Punab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avirup","family":"Dutta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maris","family":"Laan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.xfre.2025.10.008_bib1","first-page":"18","article-title":"Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts","volume":"32","author":"Punab","year":"2017","journal-title":"Hum Reprod"},{"key":"10.1016\/j.xfre.2025.10.008_bib2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1093\/bmb\/ldab025","article-title":"Translational aspects of novel findings in genetics of male infertility-status quo 2021","volume":"140","author":"Laan","year":"2021","journal-title":"Br Med Bull"},{"key":"10.1016\/j.xfre.2025.10.008_bib3","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1111\/andr.13728","article-title":"How exome sequencing improves the diagnostics and management of men with non-syndromic infertility","volume":"13","author":"Stallmeyer","year":"2025","journal-title":"Andrology"},{"key":"10.1016\/j.xfre.2025.10.008_bib4","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2024.03.013","article-title":"Toward clinical exomes in diagnostics and management of male infertility","volume":"111","author":"Lillepea","year":"2024","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.xfre.2025.10.008_bib5","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1111\/andr.13835","article-title":"Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years","volume":"13","author":"Akbari","year":"2025","journal-title":"Andrology"},{"key":"10.1016\/j.xfre.2025.10.008_bib6","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1111\/andr.13742","article-title":"Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: validation and 10-month experience","volume":"13","author":"Oud","year":"2025","journal-title":"Andrology"},{"issue":"Suppl 2","key":"10.1016\/j.xfre.2025.10.008_bib7","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/andr.13260","article-title":"The European Academy of Andrology (EAA) ultrasound study on healthy, fertile men: an overview on male genital tract ultrasound reference ranges","volume":"10","author":"Lotti","year":"2022","journal-title":"Andrology"},{"key":"10.1016\/j.xfre.2025.10.008_bib8","series-title":"Estonian [translated to English \u2018Statistical portrait of an Estonian man\u2019]","article-title":"Eesti mehe statistiline portree","year":"2012"},{"key":"10.1016\/j.xfre.2025.10.008_bib9","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1111\/andr.13514","article-title":"EAA\/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state of the art 2023","volume":"12","author":"Krausz","year":"2024","journal-title":"Andrology"},{"key":"10.1016\/j.xfre.2025.10.008_bib10","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100987","article-title":"Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X\/46,XY mosaicism: a population-based registry study","volume":"26","author":"Stochholm","year":"2024","journal-title":"Genet Med"},{"key":"10.1016\/j.xfre.2025.10.008_bib11","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1002\/ajmg.a.62127","article-title":"Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype","volume":"18","author":"Guzewicz","year":"2021","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.xfre.2025.10.008_bib12","first-page":"11","article-title":"Management of males with 45,X\/46,XY gonadal dysgenesis","volume":"52","author":"M\u00fcller","year":"1999","journal-title":"Horm Res"},{"key":"10.1016\/j.xfre.2025.10.008_bib13","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s00595-005-3076-6","article-title":"Synchronous bilateral breast carcinoma in a 50-year-old man with 45,X\/46,XY mosaic karyotype: report of a case","volume":"36","author":"Franceschini","year":"2006","journal-title":"Surg Today"},{"key":"10.1016\/j.xfre.2025.10.008_bib14","doi-asserted-by":"crossref","first-page":"917","DOI":"10.3390\/ijerph18030917","article-title":"Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line","volume":"18","author":"Debo","year":"2021","journal-title":"Int J Environ Res Public Health"},{"key":"10.1016\/j.xfre.2025.10.008_bib15","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1159\/000455260","article-title":"The clinical manifestation and genetic evaluation in patients with 45,X\/46,XY mosaicism","volume":"11","author":"Wu","year":"2017","journal-title":"Sex Dev"},{"key":"10.1016\/j.xfre.2025.10.008_bib16","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1530\/EJE-11-0756","article-title":"Impaired puberty, fertility, and final stature in 45,X\/46,XY mixed gonadal dysgenetic patients raised as boys","volume":"166","author":"Martinerie","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.xfre.2025.10.008_bib17","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1159\/000441342","article-title":"Growth in boys with 45,X\/46,XY mosaicism: effect of growth hormone treatment on statural growth","volume":"9","author":"Bertelloni","year":"2015","journal-title":"Sex Dev"},{"key":"10.1016\/j.xfre.2025.10.008_bib18","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ajmg.1320530204","article-title":"Phenotype\/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases","volume":"53","author":"Hsu","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.xfre.2025.10.008_bib19","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1159\/000519368","article-title":"45,X\/46,XY mosaicism with male phenotype: case report","volume":"106","author":"Carre\u00f1o-Mart\u00ednez","year":"2022","journal-title":"Urol Int"},{"key":"10.1016\/j.xfre.2025.10.008_bib20","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1297\/cpe.24.11","article-title":"A 45,X\/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads","volume":"24","author":"Nomura","year":"2015","journal-title":"Clin Pediatr Endocrinol"},{"key":"10.1016\/j.xfre.2025.10.008_bib21","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10815-009-9296-8","article-title":"Cytogenetic abnormalities in 179 cases with male infertility in western region of Turkey: report and review","volume":"26","author":"Akgul","year":"2009","journal-title":"J Assist Reprod Genet"},{"key":"10.1016\/j.xfre.2025.10.008_bib22","doi-asserted-by":"crossref","DOI":"10.1590\/1414-431x20198980","article-title":"High frequency of Y chromosome microdeletions in male infertility patients with 45,X\/46,XY mosaicism","volume":"53","author":"Li","year":"2020","journal-title":"Braz J Med Biol Res"},{"key":"10.1016\/j.xfre.2025.10.008_bib23","doi-asserted-by":"crossref","first-page":"6380","DOI":"10.12998\/wjcc.v8.i24.6380","article-title":"SRY-negative 45,X\/46,XY adult male with complete masculinization and infertility: a case report and review of literature","volume":"8","author":"Wu","year":"2020","journal-title":"World J Clin Cases"},{"key":"10.1016\/j.xfre.2025.10.008_bib24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12610-023-00218-7","article-title":"Correction: complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men","volume":"34","author":"Fedder","year":"2024","journal-title":"Basic Clin Androl"},{"key":"10.1016\/j.xfre.2025.10.008_bib25","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s00345-022-04273-z","article-title":"Enlarged prostatic utricle and vagina masculinus in boys with disorders of sex development","volume":"41","author":"Acimi","year":"2023","journal-title":"World J Urol"},{"key":"10.1016\/j.xfre.2025.10.008_bib26","doi-asserted-by":"crossref","first-page":"626.e1","DOI":"10.1016\/j.jpurol.2019.09.002","article-title":"Perineal hypospadias repair with preservation of a coincidental vagina or perineal utricle in boys with disorders of sex development","volume":"15","author":"Wolffenbuttel","year":"2019","journal-title":"J Pediatr Urol"},{"key":"10.1016\/j.xfre.2025.10.008_bib27","doi-asserted-by":"crossref","first-page":"E108","DOI":"10.5489\/cuaj.1574","article-title":"45,X\/46,XY mixed gonadal dysgenesis: a case of successful sperm extraction","volume":"8","author":"Flannigan","year":"2014","journal-title":"Can Urol Assoc J"},{"key":"10.1016\/j.xfre.2025.10.008_bib28","article-title":"Clinical case of 45,X\/46,XY mosaic male with ejaculatory disorder associated with seminal vesicle dysplasia: a case report","volume":"12","author":"Karibe","year":"2024","journal-title":"Sex Med"},{"key":"10.1016\/j.xfre.2025.10.008_bib29","doi-asserted-by":"crossref","first-page":"E1540","DOI":"10.1210\/jc.2012-1388","article-title":"45,X\/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study","volume":"97","author":"Lindhardt Johansen","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.xfre.2025.10.008_bib30","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s00431-011-1600-9","article-title":"Description of children with 45,X\/46,XY karyotype","volume":"171","author":"Tosson","year":"2012","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.xfre.2025.10.008_bib31","doi-asserted-by":"crossref","first-page":"287","DOI":"10.4103\/aja.aja_63_19","article-title":"A 30-year retrospective study of rare ectopic seminal tract opening cases","volume":"22","author":"Wu","year":"2020","journal-title":"Asian J Androl"},{"key":"10.1016\/j.xfre.2025.10.008_bib32","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1542\/peds.104.2.304","article-title":"45,X\/46,XY mosaicism: report of 27 cases","volume":"104","author":"Telvi","year":"1999","journal-title":"Pediatrics"},{"key":"10.1016\/j.xfre.2025.10.008_bib33","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.diff.2018.08.005","article-title":"Development of the human prostate","volume":"103","author":"Cunha","year":"2018","journal-title":"Differentiation"},{"key":"10.1016\/j.xfre.2025.10.008_bib34","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1111\/j.1439-0272.1992.tb02636.x","article-title":"Morphology and functions of the human seminal vesicle","volume":"24","author":"Aum\u00fcller","year":"1992","journal-title":"Andrologia"},{"key":"10.1016\/j.xfre.2025.10.008_bib35","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ca.23557","article-title":"Morphology of ejaculatory ducts: a systematic review","volume":"33","author":"Mathangasinghe","year":"2020","journal-title":"Clin Anat"},{"key":"10.1016\/j.xfre.2025.10.008_bib36","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s13224-021-01448-3","article-title":"Clinical and reproductive characteristics of patients with mixed gonadal dysgenesis (45,X\/46, XY)","volume":"71","author":"Das","year":"2021","journal-title":"J Obstet Gynaecol India"},{"key":"10.1016\/j.xfre.2025.10.008_bib37","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1530\/EJE-18-0309","article-title":"Should 45,X\/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?","volume":"179","author":"Dumeige","year":"2018","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.xfre.2025.10.008_bib38","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.xfre.2025.10.008_bib39","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63451","article-title":"45,X\/46,XY mosaicism: clinical manifestations and long term follow-up","volume":"194","author":"Alkhunaizi","year":"2024","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.xfre.2025.10.008_bib40","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/S0015-0282(16)44950-2","article-title":"A clinical and cytogenetic study of fifteen patients with 45,X\/46XY gonadal dysgenesis","volume":"34","author":"Gantt","year":"1980","journal-title":"Fertil Steril"},{"key":"10.1016\/j.xfre.2025.10.008_bib41","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000078608","article-title":"Asperger syndrome, obsessive-compulsive disorder, and major depression in a patient with 45,X\/46,XY mosaicism","volume":"37","author":"Fontenelle","year":"2004","journal-title":"Psychopathology"},{"key":"10.1016\/j.xfre.2025.10.008_bib42","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1056\/NEJM196011242632102","article-title":"Human intersex with chromosome mosaicism of type XY\/XO. Report of a case","volume":"263","author":"Hirschhorn","year":"1960","journal-title":"N Engl J Med"},{"key":"10.1016\/j.xfre.2025.10.008_bib43","first-page":"293","article-title":"A rare case of 45,X\/46,X,del(Y)(q12\u2192qter) mosaicism in an infertile male with Y chromosome microdeletion","volume":"24","author":"Patel","year":"2023","journal-title":"J Reprod Infertil"},{"key":"10.1016\/j.xfre.2025.10.008_bib44","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1093\/humrep\/deac100","article-title":"Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management","volume":"37","author":"Kasak","year":"2022","journal-title":"Hum Reprod"},{"key":"10.1016\/j.xfre.2025.10.008_bib45","doi-asserted-by":"crossref","DOI":"10.1093\/hropen\/hoaf008","article-title":"Significantly increased load of hereditary cancer-linked germline variants in infertile men","volume":"2025","author":"Valkna","year":"2025","journal-title":"Hum Reprod Open"},{"key":"10.1016\/j.xfre.2025.10.008_bib46","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/s41598-023-27750-w","article-title":"Microdeletions and microduplications linked to severe congenital disorders in infertile men","volume":"13","author":"Kikas","year":"2023","journal-title":"Sci Rep"}],"container-title":["F&S Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666334125001552?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666334125001552?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T22:38:52Z","timestamp":1773873532000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666334125001552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["S2666334125001552"],"URL":"https:\/\/doi.org\/10.1016\/j.xfre.2025.10.008","relation":{},"ISSN":["2666-3341"],"issn-type":[{"value":"2666-3341","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic odyssey of a male with 45,X\/46,XY mosaicism: case report and review of the literature","name":"articletitle","label":"Article Title"},{"value":"F&S Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xfre.2025.10.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American Society for Reproductive Medicine.","name":"copyright","label":"Copyright"}]}}