X Chromosome Deletion in an Iranian Woman with Premature Ovarian Failure and a Mini Review

Abstract

Premature ovarian failure (POF) is a reproductive disorder which causes ovarian insufficiency before the age of 40, resulting in anovulating ovaries in approximately 1% of women with secondary amenorrhea and a slightly different prevalence among different ethnic populations. Decrease in gonadal estrogens and Inhibin besides elevated Luteinizing hormone (LH) and follicle stimulating hormone (FSH) are of well documented POF reasons. Moreover, a partial ovarian failure has been revealed to be associated with deficient germ cell development and complete ovarian dysfunction. POF patients experience a variety of genetic defects based of the heterogeneous nature of the disease. Some patients carry chromosome abnormalities, some are carriers of single gene defects and others have a mosaic pattern of a specific genetic anomaly in their body cell organization causing secondary amenorrhea. Half of the patients show temporary condition with spontaneous resumption of menses and normal FSH levels or normal pregnancy. Our goal of this article is to review POF cytogenetic abnormalities including X chromosome defects while introducing a new case of carrier POF for X chromosome deletion. In this case report, a new case of POF arising from X chromosome deletion is described as well as a review of the relevant literature, are presented. The patient provided written informed consent for this study. While genome wide association study is a promising tool for detection the ultimate genetic events resulting in POF, still easy access, cheap and informative cytogenetic methods are considered as the first priority in detecting POF causation. Keywords: