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Korean Journal of Obstetrics & Gynecology 2005;48(8):2000-2004.
Published online August 1, 2005.
A Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome.
Ji Hyun Shin, Jae Chun Byun, Myoung Seok Han, Moon Seok Cha, Goo Hwa Je, Hyun Ho Kim, Jin Yeong Han
1Department of Obstetrics and Gynecology, Dong-A University, College of Medicine, Busan, Korea. hmsobgy@dau.ac.kr
2Department of Laboratory Medicine, Dong-A University, College of Medicine, Busan, Korea.
Abstract
Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle stimulating hormone value of >40 mIU/mL and the frequency of POF is about 1% of all women. Although the etiologies of POF remain unknown, suggested factors are genetic, autoimmune, chemotherapy and environmental toxicants. The cytogenetic abnormalities predominantly concern the X chromosome, including Turner syndrome, Fragile X syndrome and deletion or translocation of X chromosome. We report a case of premature ovarian failure with the following karyotype: 46,X,der(X), t(X;11)(q28;p13).
Key Words: Premature ovarain failure (POF), X chromosome, Unbalanced translocation


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