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dc.contributor.author
Ljubicic, Marie Lindhardt
dc.contributor.author
Jørgensen, Anne
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Acerini, Carlo
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Andrade, Juliana
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Balsamo, Antonio
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Bertelloni, Silvano
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Cools, Martine
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Tadokoro Cuccaro, Rieko
dc.contributor.author
Darendeliler, Feyza
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Flück, Christa E
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Grinspon, Romina
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Maciel Guerra, Andrea
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Guran, Tulay
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Hannema, Sabine E
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Lucas Herald, Angela K
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Hiort, Olaf
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Holterhus, Paul Martin
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Lichiardopol, Corina
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Looijenga, Leendert H J
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Ortolano, Rita
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Riedl, Stefan
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Ahmed, S. Faisal
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Juul, Anders
dc.date.available
2024-07-04T12:52:02Z
dc.date.issued
2019-10
dc.identifier.citation
Ljubicic, Marie Lindhardt; Jørgensen, Anne; Acerini, Carlo; Andrade, Juliana; Balsamo, Antonio; et al.; Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 104; 10; 10-2019; 4366-4381
dc.identifier.issn
0021-972X
dc.identifier.uri
http://hdl.handle.net/11336/239073
dc.description.abstract
Context Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare. Objective 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. Design A retrospective, multicenter study. Setting Sixteen tertiary centers. Patients or Other Participants Sixty-three males older than 13 years with 45,X/46,XY mosaicism. Main Outcome Measures Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology, including risk of neoplasia. Results 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. Conclusion 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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Endocrine Society
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
46,XY/45,0
dc.subject
Testicular dysgenesis
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DSD
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Testosterone
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Endocrinología y Metabolismo
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-11-06T20:28:52Z
dc.journal.volume
104
dc.journal.number
10
dc.journal.pagination
4366-4381
dc.journal.pais
Estados Unidos
dc.description.fil
Fil: Ljubicic, Marie Lindhardt. Universidad de Copenhagen; Dinamarca
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Fil: Jørgensen, Anne. Universidad de Copenhagen; Dinamarca
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Fil: Acerini, Carlo. University of Cambridge; Reino Unido
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Fil: Andrade, Juliana. Universidade Estadual de Campinas; Brasil
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Fil: Balsamo, Antonio. Policlinico S. Orsola-Malpighi University Hospital; Italia
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Fil: Bertelloni, Silvano. Universitaria Pisana; Italia
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Fil: Cools, Martine. University of Ghent; Bélgica
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Fil: Tadokoro Cuccaro, Rieko. University of Cambridge; Reino Unido
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Fil: Darendeliler, Feyza. Istanbul University; Turquía
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Fil: Flück, Christa E. University of Bern; Suiza
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Fil: Grinspon, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
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Fil: Maciel Guerra, Andrea. Universidade Estadual de Campinas; Brasil
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Fil: Guran, Tulay. Marmara University; Turquía
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Fil: Hannema, Sabine E. Leiden University; Países Bajos. Erasmus Medical Center; Países Bajos
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Fil: Lucas Herald, Angela K. University of Glasgow; Reino Unido
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Fil: Hiort, Olaf. University of Luebeck; Alemania
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Fil: Holterhus, Paul Martin. Christian Albrechts Universitat Zu Kiel; Alemania
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Fil: Lichiardopol, Corina. University of Medicine and Pharmacy Craiova; Rumania
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Fil: Looijenga, Leendert H J. University Medical Center Rotterdam; Países Bajos. Princess Maxima Center for Paediatric Oncology; Países Bajos
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Fil: Ortolano, Rita. Policlinico S. Orsola-Malpighi University Hospital; Italia
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Fil: Riedl, Stefan. Medical University of Vienna; Austria
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Fil: Ahmed, S. Faisal. University of Glasgow; Reino Unido
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Fil: Juul, Anders. Universidad de Copenhagen; Dinamarca
dc.journal.title
Journal of Clinical Endocrinology and Metabolism
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/104/10/4366/5479357
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1210/jc.2018-02752
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