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The Capital Region of Denmark - a part of Copenhagen University Hospital
E-pub ahead of print

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

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  • Marie Lindhardt Ljubicic
  • Anne Jørgensen
  • Carlo Acerini
  • Juliana Andrade
  • Antonio Balsamo
  • Silvano Bertelloni
  • Martine Cools
  • Rieko Tadokoro Cuccaro
  • Feyza Darendeliler
  • Christa E Flück
  • Romina P Grinspon
  • Andrea Maciel-Guerra
  • Tulay Guran
  • Sabine E Hannema
  • Angela K Lucas-Herald
  • Olaf Hiort
  • Paul Martin Holterhus
  • Corina Lichiardopol
  • Leendert H J Looijenga
  • Rita Ortolano
  • Stefan Riedl
  • S Faisal Ahmed
  • Anders Juul
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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.

Original languageEnglish
JournalThe Journal of clinical endocrinology and metabolism
ISSN0021-972X
DOIs
Publication statusE-pub ahead of print - 25 Apr 2019

ID: 57276332