A case of unusual premature ovarian failure with 46,X,dup(Xq).

Hyeon, Hye Sun; Park, Bo Ra; Kim, Yun Sook; Mun, Seong Taek; Jeon, Seob; Choi, Youn Seok; Bae, Dong Han

Case Report

Korean Journal of Obstetrics & Gynecology 2009;52(8):883-888.
Published online August 1, 2009.

A case of unusual premature ovarian failure with 46,X,dup(Xq).

Hye Sun Hyeon, Bo Ra Park, Yun Sook Kim, Seong Taek Mun, Seob Jeon, Youn Seok Choi, Dong Han Bae

Department of Obstetrics and Gynecology, University of Soonchunhyang, College of Medicine, Soonchunhyang University Chunan Hospital, Chunan, Korea. drsook@schca.ac.kr

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, radiotherapy and environmental toxins. The cytogenetic abnormalities predominantly concern the X chromosome, including Turner syndrome, Fragile X syndrome and deletion, translocation, or duplication of X chromosome. We report a very rare case of premature ovarian failure with the following karyotype: 46,X,dup(Xq), and report it with a brief review of literature.

Key Words: Premature ovarian failure (POF), X chromosome, Duplication