Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis
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Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. / 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.
I: The Journal of clinical endocrinology and metabolism, Bind 104, Nr. 10, 2019, s. 4366-4381.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
Y1 - 2019
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 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.
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 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.
U2 - 10.1210/jc.2018-02752
DO - 10.1210/jc.2018-02752
M3 - Journal article
C2 - 31127831
VL - 104
SP - 4366
EP - 4381
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
SN - 0021-972X
IS - 10
ER -
ID: 228855634