Özet:

Premature ovarian failure is identified as a heterogeneous disorder leading to amenorrhea and ovarian failure before the age of 40 years. The first known sympıtom is menstrual irregularity. The phenotype appearıance 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 manifestation

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