[Prematür Ovaryan Yetmezlik Olgularında Karyotip Analizi]

Prematür ovaryan yetmezlik 40 yaşından önce amenore ve ovaryan yetmezlik ile karakterize heterojen bir bozukluktur. Hastalığın bilinen ilk semptomu düzensiz menstrüel kanamalardır. Fenotipik görünüm hormonal duruma göre değişiklik gösterir. Gonadal hormonlarda azalma ve gonadotropinlerde artış ile bir hipergonadotropik amenore durumudur. Literatürde prematür ovaryan yetmezlik ile kromozomlar ve genler arasında bir ilişki olduğunu gösteren çok sayıda çalışma mevcuttur. Bazı hastalar, otozomal ve X-kromozomu ilişkili tek gen mutasyonları taşıyıcılarıyken, bazı hastalarda Turner sendromu mozaizmi gösterilmiştir. Bu çalışmada 30 kadından 2 (%6,66)'sinde 9. kromozomda inversiyon saptanırken 28 (%93,33) kadında karyotip anormalliği saptanmadı. Ancak bu durum sıklıkla bir polimorfizmdir. Polimorfizm olup olmadığının anlaşılması için bu bireylerin soy ağaçları karyotip açısından incelenmelidir. X kromozomu ve belli bazı genler ile ilişkisi bilinse de genetik çalışmaların genişletilmesi ile prematür ovaryan yetmezlik etyolojisi daha iyi aydınlatılabilecektir

Premature Ovarian Failure and Karyotype Analysis

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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Medicine Science-Cover
  • ISSN: 2147-0634
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 2012
  • Yayıncı: Effect Publishing Agency ( EPA )
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