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Seda Ates (2016)
Publisher: Derman Medical Publishing
Journal: Journal of Clinical and Analytical Medicine
Languages: English
Types: Article
Subjects: Premature ovarian failure, X chromosome abnormalities, karyotype, Medicine, R
Identifiers:doi:10.4328/JCAM.4282
Aim: Premature ovarian insufficiency (POI) is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem Vakif University Hospital. Results: Chromosomal abnormalities were present in 12 of 65 cases (18.4%). All of them had numerical abnormalities of the X chromosome. The most frequently detected abnormalities were X chromosome mosaicisms. Two cases had fragile X premutation carriers. Eight (12.3%) women were considered as familial POI. Discussion: Our results underline the essential role of the X chromosome in the etiology of POI. Therefore, regardless of clinical features and woman%u2019s age, cytogenetic investigations should be routinely performed in cases with POI.
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