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Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

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Harvard

Ljubicic, ML, Jørgensen, A, Acerini, C, Andrade, J, Balsamo, A, Bertelloni, S, Cools, M, Cuccaro, RT, Darendeliler, F, Flück, CE, Grinspon, RP, Maciel-Guerra, A, Guran, T, Hannema, SE, Lucas-Herald, AK, Hiort, O, Holterhus, PM, Lichiardopol, C, Looijenga, LHJ, Ortolano, R, Riedl, S, Ahmed, SF & Juul, A 2019, 'Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis' The Journal of clinical endocrinology and metabolism. https://doi.org/10.1210/jc.2018-02752

APA

CBE

Ljubicic ML, Jørgensen A, Acerini C, Andrade J, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A. 2019. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis. The Journal of clinical endocrinology and metabolism. https://doi.org/10.1210/jc.2018-02752

MLA

Vancouver

Author

Ljubicic, Marie Lindhardt ; Jørgensen, Anne ; Acerini, Carlo ; Andrade, Juliana ; Balsamo, Antonio ; Bertelloni, Silvano ; Cools, Martine ; Cuccaro, Rieko Tadokoro ; Darendeliler, Feyza ; Flück, Christa E ; Grinspon, Romina P ; Maciel-Guerra, Andrea ; Guran, Tulay ; Hannema, Sabine E ; Lucas-Herald, Angela K ; Hiort, Olaf ; Holterhus, Paul Martin ; Lichiardopol, Corina ; Looijenga, Leendert H J ; Ortolano, Rita ; Riedl, Stefan ; Ahmed, S Faisal ; Juul, Anders. / Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis. In: The Journal of clinical endocrinology and metabolism. 2019.

Bibtex

@article{3ee0c2b0fe6541d19a4ff58773a4a3f2,
title = "Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis",
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 due to either genital abnormalities at birth or non-genital reasons later in life.DESIGN: A retrospective, multicenter study.SETTING: 16 tertiary centers Patients or other participants: 63 males older than 13 years with 45,X/46,XY mosaicism.INTERVENTION(S): None.MAIN OUTCOME MEASURE(S): Health outcomes such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology including risk of neoplasia.RESULTS: 35 patients were in the genital group, 28 in the non-genital. 80{\%} of all patients experienced spontaneous pubertal onset, significantly more in the non-genital 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). 27{\%} of patients received recombinant human growth hormone. 44 patients had gonadal histology evaluated. Germ cells were detected in 42{\%}. Neoplasia in situ was found in five patients. 25{\%} had focal spermatogenesis, another 25.0{\%} had arrested spermatogenesis. 14 out of 17 (82{\%}) with semen analyses were azoospermic; three had motile sperm.CONCLUSION: Patients diagnosed due to genital abnormalities have poorer health outcomes than those diagnosed due to non-genital 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 half of patients have germ cells present histologically and up to a quarter have focal spermatogenesis, providing hope for fertility treatment options.",
author = "Ljubicic, {Marie Lindhardt} and Anne J{\o}rgensen and Carlo Acerini and Juliana Andrade and Antonio Balsamo and Silvano Bertelloni and Martine Cools and Cuccaro, {Rieko Tadokoro} and Feyza Darendeliler and Fl{\"u}ck, {Christa E} and Grinspon, {Romina P} and Andrea Maciel-Guerra and Tulay Guran and Hannema, {Sabine E} and Lucas-Herald, {Angela K} and Olaf Hiort and Holterhus, {Paul Martin} and Corina Lichiardopol and Looijenga, {Leendert H J} and Rita Ortolano and Stefan Riedl and Ahmed, {S Faisal} and Anders Juul",
note = "Copyright {\circledC} 2019 Endocrine Society.",
year = "2019",
month = "4",
day = "25",
doi = "10.1210/jc.2018-02752",
language = "English",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The/Endocrine Society",

}

RIS

TY - JOUR

T1 - Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

AU - Ljubicic, Marie Lindhardt

AU - Jørgensen, Anne

AU - Acerini, Carlo

AU - Andrade, Juliana

AU - Balsamo, Antonio

AU - Bertelloni, Silvano

AU - Cools, Martine

AU - Cuccaro, Rieko Tadokoro

AU - Darendeliler, Feyza

AU - Flück, Christa E

AU - Grinspon, Romina P

AU - Maciel-Guerra, Andrea

AU - Guran, Tulay

AU - Hannema, Sabine E

AU - Lucas-Herald, Angela K

AU - Hiort, Olaf

AU - Holterhus, Paul Martin

AU - Lichiardopol, Corina

AU - Looijenga, Leendert H J

AU - Ortolano, Rita

AU - Riedl, Stefan

AU - Ahmed, S Faisal

AU - Juul, Anders

N1 - Copyright © 2019 Endocrine Society.

PY - 2019/4/25

Y1 - 2019/4/25

N2 - 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 due to either genital abnormalities at birth or non-genital reasons later in life.DESIGN: A retrospective, multicenter study.SETTING: 16 tertiary centers Patients or other participants: 63 males older than 13 years with 45,X/46,XY mosaicism.INTERVENTION(S): None.MAIN OUTCOME MEASURE(S): Health outcomes such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology including risk of neoplasia.RESULTS: 35 patients were in the genital group, 28 in the non-genital. 80% of all patients experienced spontaneous pubertal onset, significantly more in the non-genital 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). 27% of patients received recombinant human growth hormone. 44 patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. 25% had focal spermatogenesis, another 25.0% had arrested spermatogenesis. 14 out of 17 (82%) with semen analyses were azoospermic; three had motile sperm.CONCLUSION: Patients diagnosed due to genital abnormalities have poorer health outcomes than those diagnosed due to non-genital 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 half of patients have germ cells present histologically and up to a quarter have focal spermatogenesis, providing hope for fertility treatment options.

AB - 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 due to either genital abnormalities at birth or non-genital reasons later in life.DESIGN: A retrospective, multicenter study.SETTING: 16 tertiary centers Patients or other participants: 63 males older than 13 years with 45,X/46,XY mosaicism.INTERVENTION(S): None.MAIN OUTCOME MEASURE(S): Health outcomes such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology including risk of neoplasia.RESULTS: 35 patients were in the genital group, 28 in the non-genital. 80% of all patients experienced spontaneous pubertal onset, significantly more in the non-genital 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). 27% of patients received recombinant human growth hormone. 44 patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. 25% had focal spermatogenesis, another 25.0% had arrested spermatogenesis. 14 out of 17 (82%) with semen analyses were azoospermic; three had motile sperm.CONCLUSION: Patients diagnosed due to genital abnormalities have poorer health outcomes than those diagnosed due to non-genital 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 half of patients have germ cells present histologically and up to a quarter have focal spermatogenesis, providing hope for fertility treatment options.

U2 - 10.1210/jc.2018-02752

DO - 10.1210/jc.2018-02752

M3 - Journal article

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

ER -

ID: 57276332