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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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  • 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 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.

Original languageEnglish
JournalThe Journal of clinical endocrinology and metabolism
Volume104
Issue number10
Pages (from-to)4366-4381
Number of pages16
ISSN0021-972X
DOIs
Publication statusPublished - 2019

ID: 57276332