Premature ovarian failure is identified as a heterogeneous disorder leading to amenorrhea and ovarian failure before the age of 40 years. The first known symp¬tom is menstrual irregularity. The phenotype appear¬ance of POF depends significantly on the variations in hormones. Premature ovarian failure is a hypergonadotropic amenorrhea entity with low levels of gonadal hormones and increased level of gonadotropins. A literature review on recent findings about POF and its association with genomic alterations in terms of genes and chromosomes. Some of POF cases are carriers of a single gene mutation inherited in an autosomal or X-linked manner while a number of patients suffer from a chromosome abnormality like mosaic Turner syndrome.
This study detected inversion at 9th chromosome in 2 (6.66%) women of 30 and there was no karyotype abnormality in 28 (93.33%) women. This condition is usually a polymorphism and for excluding a polymorphism, the patients should be examined for pedigree karyotype.
While there is a promising association between X chromosome anomalies and specific gene mutations with POF, genome-wide analysis could prove a powerful tool for identifying the most important candidate genes that influence POF mani¬festation.
Key words: Amenorrhea, inversion, karyotype, premature ovarian failure
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