Inm-7: Genetic Etiologies of Premature Ovarian Failure
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Abstract:
Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can cause POF. According to reports several genetic factors considered to cause POF syndrome. Cytogenetic and molecular genetic studies should be done in order to identify the altered gene or numerical and structural chromosomal defects. The Chromosomal defects involving the X-linked defects, displacement and autosomal chromosome abnormalities. Chromosomal abnormalities included Turner syndrome, deletions, rearrangements and translocations are involved in near 5% of the genetic causes of the POF. Genes on the Xchromosome and autosomal genes are detected in this disorder too. FMR1 gene that is on X-chromosome is the most important gene related with POF. Premutation in this gene are more common in these patients. According to studies, many genes are involved in the development of POF, although some of the genes responsible for causing POF are often viewed as the genes under investigation in human or other animals with POF. Some of them are BMP15, FMR2, LHR, FSHR, INHA, FS1, FOXL2, FOXO3a, ER, LIN28A, PGRMC1, POF1, HSD17B, TG, LAMC1, POU5F1, TGFBR3, FOXE1, FOXO4, CITED2, SALL4, CXCL12, PTHB1, Wnt4, BRSK1, HK3, ADAMTS19, NOBOX, FIGLA, KDR, BMPRIB, BMPRII, C1galt1, Mgat1 and FGFR.
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Journal title
volume 7 issue 3
pages 125- 125
publication date 2013-09-01
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