{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T02:15:40Z","timestamp":1782872140327,"version":"3.54.5"},"reference-count":86,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Few studies of patients with a 45,X\/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X\/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty patients had a prenatal diagnosis, whereas 20 patients had a postnatal diagnosis, mainly for short stature. Most patients had stunted growth, with abnormal growth spurt during puberty and a mean adult height of 158\u2009\u00b1\u20097.6\u2009cm, i.e. \u22122.3 DS with correction for target height. Seventy percent of patients presented Turner-like syndrome features including cardiac (6\/23 patients investigated) and renal malformations (3\/19 patients investigated). Twenty-two patients had minor abnormalities of external genitalia. One patient developed a testicular embryonic carcinoma, suggesting evidence of partial gonadal dysgenesis. Moreover, puberty occurred spontaneously in 93% of patients but 71% (<jats:italic>n<\/jats:italic>\u2009=\u20095) of those evaluated at the end of puberty presented signs of declined Sertoli cell function (low inhibin B levels and increased FSH levels).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study emphasizes the need to identify and follow-up 45,X\/46,XY patients born with normal male phenotype until adulthood, as they present similar prognosis than those born with severe genital anomalies. Currently, most patients are diagnosed in adulthood with azoospermia, consistent with our observations of decreased testicular function at the end of puberty. Early management of these patients may lead to fertility preservation strategies.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-18-0309","type":"journal-article","created":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T15:46:07Z","timestamp":1530719167000},"page":"181-190","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":28,"title":["Should 45,X\/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?"],"prefix":"10.1093","volume":"179","author":[{"given":"Laurence","family":"Dumeige","sequence":"first","affiliation":[{"name":"1Pediatric Endocrinology Department, CHU Robert Debr\u00e9, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris and Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"},{"name":"2INSERM UMR-S1185, Le Kremlin Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livie","family":"Chatelais","sequence":"additional","affiliation":[{"name":"3Pediatric Department, CHU Angers, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Bouvattier","sequence":"additional","affiliation":[{"name":"4Pediatric Endocrinology Department, CHU Bic\u00eatre, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement G\u00e9nital, Assistance-Publique H\u00f4pitaux de Paris, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"De Kerdanet","sequence":"additional","affiliation":[{"name":"5Pediatric Department, CHU Rennes, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Hyon","sequence":"additional","affiliation":[{"name":"6Genetic Department, CHU Armand Trousseau, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blandine","family":"Esteva","sequence":"additional","affiliation":[{"name":"7Pediatric Endocrinology Department, CHU Armand Trousseau, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinane","family":"Samara-Boustani","sequence":"additional","affiliation":[{"name":"8Pediatric Endocrinology Department, CHU Necker-Enfants Malades, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Zenaty","sequence":"additional","affiliation":[{"name":"1Pediatric Endocrinology Department, CHU Robert Debr\u00e9, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris and Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Nicolino","sequence":"additional","affiliation":[{"name":"9Pediatric Endocrinology Department, CHU Lyon, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement G\u00e9nital, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[{"name":"10Pediatric Department CHU Nantes, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Metz-Blond","sequence":"additional","affiliation":[{"name":"11Pediatric Department CHRU Brest, Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Naud-Saudreau","sequence":"additional","affiliation":[{"name":"12Centre Hospitalier de Bretagne Sud, Lorient, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mentine","family":"Dupuis","sequence":"additional","affiliation":[{"name":"13CHU Grenoble, La Tronche, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"L\u00e9ger","sequence":"additional","affiliation":[{"name":"1Pediatric Endocrinology Department, CHU Robert Debr\u00e9, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris and Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Siffroi","sequence":"additional","affiliation":[{"name":"6Genetic Department, CHU Armand Trousseau, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Donadille","sequence":"additional","affiliation":[{"name":"14Endocrinology Department, CHU St-Antoine, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Christin-Maitre","sequence":"additional","affiliation":[{"name":"14Endocrinology Department, CHU St-Antoine, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Claude","family":"Carel","sequence":"additional","affiliation":[{"name":"1Pediatric Endocrinology Department, CHU Robert Debr\u00e9, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris and Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regis","family":"Coutant","sequence":"additional","affiliation":[{"name":"2INSERM UMR-S1185, Le Kremlin Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laetitia","family":"Martinerie","sequence":"additional","affiliation":[{"name":"1Pediatric Endocrinology Department, CHU Robert Debr\u00e9, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique H\u00f4pitaux de Paris and Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"},{"name":"2INSERM UMR-S1185, Le Kremlin Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"ref81","doi-asserted-by":"publisher","first-page":"201297","DOI":"10.1210\/jc.2012-1388","article-title":"JohansenMHagenCPRajpert mosaicism phenotypic characteristics growth and reproductive function a retrospective longitudinal study of and https org","author":"Lindhardt","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref161","first-page":"453","article-title":"Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review","volume":"119","year":"2009","journal-title":"Polskie Archiwum Medycyny Wewnetrznej"},{"key":"ref361","doi-asserted-by":"publisher","first-page":"201196","DOI":"10.1210\/jc.2011-0232","article-title":"pathology and tumor risk in relation to clinical characteristics in patients with mosaicism of and https org","volume":"45","author":"Gonadal","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"501","DOI":"10.14310\/horm.2002.1384","article-title":"45,X\/46,XY mosaicism: a cause of short stature in males","volume":"11","year":"2012","journal-title":"Hormones"},{"key":"ref761","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S0022-3468(79)80486-8","article-title":"Mixed gonadal dysgenesis, pathogensis, and management","volume":"14","year":"1979","journal-title":"Journal of Pediatric Surgery"},{"key":"ref501","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","year":"2017","journal-title":"Sexual Development"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.2006.00654.x","article-title":"Phenotypic variability in isodicentric Y patients: study of nine cases","volume":"70","year":"2006","journal-title":"Clinical Genetics"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.fertnstert.2007.12.078","article-title":"Phenotypic spectrum of 45,X\/46,XY males with a ring Y chromosome and bilaterally descended testes","volume":"91","year":"2009","journal-title":"Fertility and Sterility"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1210\/jcem.87.3.8328","article-title":"Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature","volume":"87","year":"2002","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1399-0004.1996.tb03784.x","article-title":"Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis","volume":"49","year":"1996","journal-title":"Clinical Genetics"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/pd.1970090106","article-title":"Prenatal diagnosis of 45,X\/46,XY mosaicism \u2013 a review and update","volume":"9","year":"1989","journal-title":"Prenatal Diagnosis"},{"key":"ref631","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S0003-3995(03)00016-9","article-title":"FISH and PCR analyses in three patients with 45,X\/46,X,idic(Y) karyotype: clinical and pathologic spectrum","volume":"46","year":"2003","journal-title":"Annales de G\u00e9n\u00e9tique"},{"key":"ref471","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","year":"1980","journal-title":"Fertility and Sterility"},{"key":"ref711","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/ajmg.a.30712","article-title":"Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability","volume":"135A","year":"2005","journal-title":"American Journal of Medical Genetics Part A"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.fertnstert.2007.02.058","article-title":"High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X\/46,XY gonadal dysgenesis","volume":"89","year":"2008","journal-title":"Fertility and Sterility"},{"key":"ref651","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1289\/ehp.99107297","article-title":"International trends in rates of hypospadias and cryptorchidism","volume":"107","year":"1999","journal-title":"Environmental Health Perspectives"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/humrep\/dei426","article-title":"Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes","volume":"21","year":"2006","journal-title":"Human Reproduction"},{"key":"ref291","doi-asserted-by":"publisher","first-page":"20148","DOI":"10.5489\/cuaj.1574","article-title":"FlanniganRKChowVMaSYuzpeA mixed gonadal dysgenesis : a case of successful sperm extraction Canadian Urological Association https org","journal-title":"Journal"},{"key":"ref771","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.beem.2007.05.001","article-title":"Tumor risk in disorders of sex development (DSD)","volume":"21","year":"2007","journal-title":"Best Practice and Research. Clinical Endocrinology and Metabolism"},{"key":"ref661","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s40618-016-0541-6","article-title":"Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism","volume":"40","year":"2017","journal-title":"Journal of Endocrinological Investigation"},{"key":"ref801","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1210\/jcem.87.3.8328","article-title":"Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature","volume":"87","year":"2002","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1289\/ehp.99107297","article-title":"International trends in rates of hypospadias and cryptorchidism","volume":"107","year":"1999","journal-title":"Environmental Health Perspectives"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1080\/01485010500315545","article-title":"Chromosomal abnormalities in patients with azoospermia in Western Mexico","volume":"52","year":"2006","journal-title":"Archives of Andrology"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1399-0004.1996.tb03784.x","article-title":"Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis","volume":"49","year":"1996","journal-title":"Clinical Genetics"},{"key":"ref811","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1056\/NEJMra030360","article-title":"Turner\u2019s syndrome","volume":"351","year":"2004","journal-title":"New England Journal of Medicine"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S0022-3468(79)80486-8","article-title":"Mixed gonadal dysgenesis, pathogensis, and management","volume":"14","year":"1979","journal-title":"Journal of Pediatric Surgery"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1097\/01241398-200111000-00012","article-title":"Increased prevalence of scoliosis in Turner syndrome","volume":"21","year":"2001","journal-title":"Journal of Pediatric Orthopedics"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"501","DOI":"10.14310\/horm.2002.1384","article-title":"45,X\/46,XY mosaicism: a cause of short stature in males","volume":"11","year":"2012","journal-title":"Hormones"},{"key":"ref691","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1111\/jog.12765","article-title":"Male infertility and its genetic causes","volume":"41","year":"2015","journal-title":"Journal of Obstetrics and Gynaecology Research"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00439-014-1420-x","article-title":"Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss","volume":"133","year":"2014","journal-title":"Human Genetics"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.2006.00654.x","article-title":"Phenotypic variability in isodicentric Y patients: study of nine cases","volume":"70","year":"2006","journal-title":"Clinical Genetics"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF01213097","article-title":"Chromosome abnormalities found among 34 910 newborn children: results from a 13-year incidence study in Arhus, Denmark","volume":"87","year":"1991","journal-title":"Human Genetics"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","article-title":"Consensus statement on management of intersex disorders","volume":"2","year":"2006","journal-title":"Journal of Pediatric Urology"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1111\/jog.12765","article-title":"Male infertility and its genetic causes","volume":"41","year":"2015","journal-title":"Journal of Obstetrics and Gynaecology Research"},{"key":"ref41","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","year":"1980","journal-title":"Fertility and Sterility"},{"key":"ref181","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","year":"2015","journal-title":"Clinical Pediatric Endocrinology"},{"key":"ref431","first-page":"156","article-title":"The phenotype of 45,X\/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases","volume":"46","year":"1990","journal-title":"American Journal of Human Genetics"},{"key":"ref721","doi-asserted-by":"publisher","first-page":"20148","DOI":"10.5489\/cuaj.1574","article-title":"FlanniganRKChowVMaSYuzpeA mixed gonadal dysgenesis : a case of successful sperm extraction Canadian Urological Association https org","journal-title":"Journal"},{"key":"ref821","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","year":"2015","journal-title":"Sexual Development"},{"key":"ref511","doi-asserted-by":"publisher","first-page":"201297","DOI":"10.1210\/jc.2012-1388","article-title":"JohansenMHagenCPRajpert mosaicism phenotypic characteristics growth and reproductive function a retrospective longitudinal study of and https org","author":"Lindhardt","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref541","article-title":"A rare cause of male infertility: 45,X\/46,XY mosaicism","year":"2017","journal-title":"Urologia Internationalis"},{"key":"ref671","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","year":"1994","journal-title":"American Journal of Medical Genetics"},{"key":"ref781","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.humpath.2005.02.016","article-title":"Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3\/4 and TSPY","volume":"36","year":"2005","journal-title":"Human Pathology"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.gyobfe.2009.04.018","article-title":"Y chromosome structural abnormalities and Turner\u2019s syndrome","volume":"37","year":"2009","journal-title":"Gyn\u00e9cologie, Obst\u00e9trique and Fertilit\u00e9"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s00431-004-1406-0","article-title":"Short stature in children with an apparently normal male phenotype can be caused by 45,X\/46,XY mosaicism and is susceptible to growth hormone treatment","volume":"163","year":"2004","journal-title":"European Journal of Pediatrics"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1080\/01485010500315545","article-title":"Chromosomal abnormalities in patients with azoospermia in Western Mexico","volume":"52","year":"2006","journal-title":"Archives of Andrology"},{"key":"ref841","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/pd.1970090106","article-title":"Prenatal diagnosis of 45,X\/46,XY mosaicism \u2013 a review and update","volume":"9","year":"1989","journal-title":"Prenatal Diagnosis"},{"key":"ref31","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","year":"1999","journal-title":"Pediatrics"},{"key":"ref461","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","year":"1999","journal-title":"Pediatrics"},{"key":"ref311","first-page":"645","article-title":"45,X\/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia. A case report.","volume":"44","year":"1999","journal-title":"Journal of Reproductive Medicine"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"e13009","DOI":"10.1111\/and.13009","article-title":"Clinical aspects of 49 infertile males with 45,X\/46,XY mosaicism karyotype: a case series","volume":"50","year":"2018","journal-title":"Andrologia"},{"key":"ref61","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","year":"2012","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"ref71","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","year":"2017","journal-title":"Sexual Development"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1159\/000281468","article-title":"Children with 45,X\/46,XY karyotype from birth to adult height","volume":"74","year":"2010","journal-title":"Hormone Research in Paediatrics"},{"key":"ref401","first-page":"319","article-title":"Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening","volume":"30","year":"2017","journal-title":"Journal of Pediatric Endocrinology and Metabolism"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.humpath.2005.02.016","article-title":"Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3\/4 and TSPY","volume":"36","year":"2005","journal-title":"Human Pathology"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.gyobfe.2009.04.018","article-title":"Y chromosome structural abnormalities and Turner\u2019s syndrome","volume":"37","year":"2009","journal-title":"Gyn\u00e9cologie, Obst\u00e9trique and Fertilit\u00e9"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1056\/NEJMra030360","article-title":"Turner\u2019s syndrome","volume":"351","year":"2004","journal-title":"New England Journal of Medicine"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S0003-3995(03)00016-9","article-title":"FISH and PCR analyses in three patients with 45,X\/46,X,idic(Y) karyotype: clinical and pathologic spectrum","volume":"46","year":"2003","journal-title":"Annales de G\u00e9n\u00e9tique"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1093\/humrep\/deh598","article-title":"Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation","volume":"20","year":"2005","journal-title":"Human Reproduction"},{"key":"ref391","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","year":"2015","journal-title":"Sexual Development"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.beem.2007.05.001","article-title":"Tumor risk in disorders of sex development (DSD)","volume":"21","year":"2007","journal-title":"Best Practice and Research. Clinical Endocrinology and Metabolism"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00439-014-1420-x","article-title":"Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss","volume":"133","year":"2014","journal-title":"Human Genetics"},{"key":"ref701","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.fertnstert.2007.02.058","article-title":"High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X\/46,XY gonadal dysgenesis","volume":"89","year":"2008","journal-title":"Fertility and Sterility"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF01213097","article-title":"Chromosome abnormalities found among 34 910 newborn children: results from a 13-year incidence study in Arhus, Denmark","volume":"87","year":"1991","journal-title":"Human Genetics"},{"key":"ref611","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","year":"2015","journal-title":"Clinical Pediatric Endocrinology"},{"key":"ref731","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1093\/humrep\/deh598","article-title":"Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation","volume":"20","year":"2005","journal-title":"Human Reproduction"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/ajmg.a.30712","article-title":"Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability","volume":"135A","year":"2005","journal-title":"American Journal of Medical Genetics Part A"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s40618-016-0541-6","article-title":"Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism","volume":"40","year":"2017","journal-title":"Journal of Endocrinological Investigation"},{"key":"ref851","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1097\/01241398-200111000-00012","article-title":"Increased prevalence of scoliosis in Turner syndrome","volume":"21","year":"2001","journal-title":"Journal of Pediatric Orthopedics"},{"key":"ref241","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","year":"1994","journal-title":"American Journal of Medical Genetics"},{"key":"ref831","first-page":"319","article-title":"Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening","volume":"30","year":"2017","journal-title":"Journal of Pediatric Endocrinology and Metabolism"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"e13009","DOI":"10.1111\/and.13009","article-title":"Clinical aspects of 49 infertile males with 45,X\/46,XY mosaicism karyotype: a case series","volume":"50","year":"2018","journal-title":"Andrologia"},{"key":"ref641","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/humrep\/dei426","article-title":"Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes","volume":"21","year":"2006","journal-title":"Human Reproduction"},{"key":"ref01","first-page":"156","article-title":"The phenotype of 45,X\/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases","volume":"46","year":"1990","journal-title":"American Journal of Human Genetics"},{"key":"ref791","doi-asserted-by":"publisher","first-page":"201196","DOI":"10.1210\/jc.2011-0232","article-title":"pathology and tumor risk in relation to clinical characteristics in patients with mosaicism of and https org","volume":"45","author":"Gonadal","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref591","first-page":"453","article-title":"Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review","volume":"119","year":"2009","journal-title":"Polskie Archiwum Medycyny Wewnetrznej"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s00431-004-1406-0","article-title":"Short stature in children with an apparently normal male phenotype can be caused by 45,X\/46,XY mosaicism and is susceptible to growth hormone treatment","volume":"163","year":"2004","journal-title":"European Journal of Pediatrics"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.fertnstert.2007.12.078","article-title":"Phenotypic spectrum of 45,X\/46,XY males with a ring Y chromosome and bilaterally descended testes","volume":"91","year":"2009","journal-title":"Fertility and Sterility"},{"key":"ref741","first-page":"645","article-title":"45,X\/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia. A case report.","volume":"44","year":"1999","journal-title":"Journal of Reproductive Medicine"},{"key":"ref751","first-page":"488","article-title":"LeePAHoukCPAhmedSFHughesIA International Consensus Conference on Intersex Organized by the Wilkins Pediatric and the European Society for Paediatric Consensus statement on management of intersex disorders International Consensus Conference on Intersex","author":"Lawson","journal-title":"Endocrine Society Endocrinology Pediatrics"},{"key":"ref111","article-title":"A rare cause of male infertility: 45,X\/46,XY mosaicism","year":"2017","journal-title":"Urologia Internationalis"},{"key":"ref491","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","year":"2012","journal-title":"European Journal of Endocrinology\/European Federation of Endocrine Societies"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1159\/000281468","article-title":"Children with 45,X\/46,XY karyotype from birth to adult height","volume":"74","year":"2010","journal-title":"Hormone Research in Paediatrics"},{"key":"ref321","first-page":"488","article-title":"LeePAHoukCPAhmedSFHughesIA International Consensus Conference on Intersex Organized by the Wilkins Pediatric and the European Society for Paediatric Consensus statement on management of intersex disorders International Consensus Conference on Intersex","author":"Lawson","journal-title":"Endocrine Society Endocrinology Pediatrics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","article-title":"Consensus statement on management of intersex disorders","volume":"2","year":"2006","journal-title":"Journal of Pediatric Urology"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/179\/3\/EJE-18-0309.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1530\/EJE-18-0309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T15:26:02Z","timestamp":1751729162000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/179\/3\/181\/6655431"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":86,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/eje-18-0309","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9]]}}}