Korean J Obstet Gynecol.  2005 Aug;48(8):2000-2004.

A Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome

Affiliations
  • 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).

Keyword

Premature ovarain failure (POF); X chromosome; Unbalanced translocation
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