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

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.