Genetic abnormalities in Turkish women with premature ovarian failure

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• 作者：Gulay Ceylaner ; Sunduz Ozlem Altinkaya ; Leyla Mollamahmutoglu ; Serdar Ceylaner
• 刊名：International Journal of Gynecology and Obstetrics
• 出版年：2010
• 出版时间：August 2010
• 年：2010
• 卷：110
• 期：2
• 页码：122-124
• 全文大小：103 K

文摘

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.