I-36: The Necessity of Genetic Screening in Premature Ovarian Failure and Diminished Ovarian Reserved Patients

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Abstract:

Variability in the subfertile patient population excludes the possibility of a single approach to controlled ovarian stimulation (COS) covering all the requirements of a patient. Modern medical science has made great advances in the understanding and the development of new drugs, treatment options and quantitative methods that can identify single patient characteristics. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can cause premature ovarian failure (POF) or diminished ovarian reserve (DOR). According to reports several genetic factors considered to cause these conditions. Genes on the X-chromosome and autosomal genes are detected in these disorders too. FMR1 gene that is on X-chromosome is one of the important genes which is related to POF and also DOR. Premutation in this gene are more common in these patients. Subsequently, screening for FMR1 premutations is recommended for the routine work-up for any woman presenting with POF and DOR. The reason for this is these women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the identification of a family in which the fragile X repeat site is expanded can lead to the identification of other female family members at risk of transmitting fragile X syndrome. Presently, even though the biological response to any given drug may be influenced by hundreds of genes, progress is being made in the identification of specific genetic variances such as SNPs that can predict the safety and effectiveness of certain drugs in individual patients. For example, there are evidences that GDF-9 c.G546A to be correlated with POF, poor ovarian stimulation and in vitro fertilization outcomes in women with DOR. Another possible reason for this hyporesponder population is that they may have a genetic predisposition to a reduced sensitivity to FSH which may also be caused by a genetic variation and polymorphisms of the LH, the FSH receptor or the LH receptor. Moreover, a multigenic model including specific ESR1 and ESR2 genotype patterns may partially explain the poor response to FSH. Besides, the ER-alpha gene polymorphisms may be associated with idiopathic POF too. Thus, genetic testing of women showing reduced sensitivity to FSH may assist in tailoring subsequent treatment. Finally, in the future, genetic screening may allow an individual patient’s response to stimulation during COS to be predicted based on genotype. If a patient’s genetic profile also diminishes her response to fertility treatment, the failure to consider the genotype when designing the treatment consequently leads to a suboptimal treatment strategy.

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Journal title

volume 7  issue 3

pages  16- 16

publication date 2013-09-01

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