Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Effect of the incretin hormones on the endocrine pancreas in end-stage renal disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Gene Expression in Granulosa Cells From Small Antral Follicles From Women With or Without Polycystic Ovaries

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Investigating Intestinal Glucagon after Roux-en-Y Gastric Bypass Surgery

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Quantitative Differences in TGF-β Family Members Measured in Small Antral Follicle Fluids From Women With or Without PCO

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. High maternal age at first and subsequent child births in Denmark in the mid-1800s-Letter to the editor

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • 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
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftThe Journal of clinical endocrinology and metabolism
Vol/bind104
Udgave nummer10
Sider (fra-til)4366-4381
Antal sider16
ISSN0021-972X
DOI
StatusUdgivet - 2019

Bibliografisk note

Copyright © 2019 Endocrine Society.

ID: 57276332