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

Shin, Ji Hyun; Byun, Jae Chun; Han, Myoung Seok; Cha, Moon Seok; Je, Goo Hwa; Kim, Hyun Ho; Han, Jin Yeong

Obstet Gynecol Sci > Volume 48(8); 2005 > Article

Case Report

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).

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