Genetic abnormalities in Turkish women with premature ovarian failure

CEYLANER G., Altinkaya S. O., Mollamahmutoglu L., CEYLANER S.

International Journal of Gynecology and Obstetrics, vol.110, no.2, pp.122-124, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 110 Issue: 2
  • Publication Date: 2010
  • Doi Number: 10.1016/j.ijgo.2010.03.023
  • Journal Name: International Journal of Gynecology and Obstetrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.122-124
  • Keywords: Cytogenetic analysis, Genetic disorders, Premature ovarian failure, ROBERTSONIAN TRANSLOCATION, FEMALE, MUTATION
  • Lokman Hekim University Affiliated: No


Objective: To identify the distribution of cytogenetic abnormalities among Turkish women with premature ovarian failure (POF). Method: A karyotype analysis was performed at the Medical Genetics Department of Zekai Tahir Burak Women's Hospital, Ankara, Turkey, for 75 women younger than 40 years found to have POF over a 5-year period. Results: There were 18 familial cases (24%), 1 of which involving an abnormality of the X chromosome [46,X,del(X)(q22)]. Sixteen patients (21.3%) had chromosomal abnormalities such as Xq and Xp deletions, translocations, and numerical aberrations; 2 had Swyer syndrome; 2 were fragile X premutation carriers; and 1 had galactosemia. Conclusion: A genetic cause of POF was identified in 39 (52%) of 75 patients. A thorough genetic evaluation of women with POF should be performed regardless of clinical features suggestive of chromosomal abnormality. © 2010 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.