Genetic abnormalities in Turkish women with premature ovarian failure

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 POP 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. (C) 2010 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.