X Chromosome Deletion in an Iranian Woman with Premature Ovarian Failure and a Mini Review
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چکیده
Infertility is one of the major clinical problems which affect approximately 15% of couples, where 30% show women factors, 30% with men factors and 30% show involvement of the two. Another 10% infertility reason is explained to be idiopathic. Premature ovarian failure (POF, OMIM 311360), a different feature of female infertility has become an attractive subject for investigation due to its increasingly high incidence and the lack of effective cure [1]. Premature ovarian failure is presently one of the clinical conflicts of our century, a common disease that affects approximately 1% of under 40 year old women. It is believed that 10-28 percent of them prove primary amenorrhea [2] while 74-90% suffers of unknown etiology [3]. The importance of the study of the genetic factors is undoubtedly a royal key for opening the minds to the blind section of the disease etiology. It is understood that apoptosis enhancement in aging ovaries [4], follicle maturation cessation, deficit of either granulosa or germ cells [4,5] and activation of unripe follicles are involved in the POF creating pathway which is induced by the followings: Autoimmune diseases such as Hashimoto [6], viruses like human papillomavirus and cytomegalovirus, surgery, chemotherapy, radiation, defects in chromosome X and consequent destruction/ disruption and/ or deletion of X-linked genes (Turner syndrome and fragile X) [7-9]. Moreover, single gene defects and metabolic disorders including galactosemia, toxins and lifestyle factors like smoking could cause idiopathic POF [10,11]. A group of these patients have normal pregnancy due to the possible occurrence of a cyclic ovarian function [12,13].
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