{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T14:09:05Z","timestamp":1782742145991,"version":"3.54.5"},"reference-count":38,"publisher":"The Endocrine Society","issue":"10","funder":[{"name":"Rigshospitalets forskningsudvalg","award":["R85-A3105"],"award-info":[{"award-number":["R85-A3105"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Larger studies on outcomes in males with 45,X\/46,XY mosaicism are rare.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To compare health outcomes in males with 45,X\/46,XY diagnosed as a result of either genital abnormalities at birth or nongenital reasons later in life.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>A retrospective, multicenter study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Setting<\/jats:title>\n                  <jats:p>Sixteen tertiary centers.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients or Other Participants<\/jats:title>\n                  <jats:p>Sixty-three males older than 13 years with 45,X\/46,XY mosaicism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main Outcome Measures<\/jats:title>\n                  <jats:p>Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology, including risk of neoplasia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Thirty-five patients were in the genital group and 28 in the nongenital. Eighty percent of all patients experienced spontaneous pubertal onset, significantly more in the nongenital group (P = 0.023). Patients were significantly shorter in the genital group with median adult heights of 156.7 cm and 164.5 cm, respectively (P = 0.016). Twenty-seven percent of patients received recombinant human GH. Forty-four patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. Twenty-five percent had focal spermatogenesis, and another 25.0% had arrested spermatogenesis. Fourteen out of 17 (82%) with semen analyses were azoospermic; three had motile sperm.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Patients diagnosed as a result of genital abnormalities have poorer health outcomes than those diagnosed as a result of nongenital reasons. Most patients, however, have relatively good endocrine gonadal function, but most are also short statured. Patients have a risk of gonadal neoplasia, and most are azoospermic, but almost one-half of patients has germ cells present histologically and up to one-quarter has focal spermatogenesis, providing hope for fertility treatment options.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2018-02752","type":"journal-article","created":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T09:03:44Z","timestamp":1556183024000},"page":"4366-4381","source":"Crossref","is-referenced-by-count":38,"title":["Clinical but Not Histological Outcomes in Males With 45,X\/46,XY Mosaicism Vary Depending on Reason for Diagnosis"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7418-6878","authenticated-orcid":false,"given":"Marie Lindhardt","family":"Ljubicic","sequence":"first","affiliation":[{"name":"Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Acerini","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Addenbrooke\u2019s Hospital, University of Cambridge, Cambridge, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Andrade","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Department of Medical Genetics, State University of Campinas, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Balsamo","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Pediatric Endocrinology Unit, Centre for Rare Endocrine Conditions, Policlinico S. 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