Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Article English OPEN
Seda Ates (2016)
  • Publisher: Derman Medical Publishing
  • Journal: Journal of Clinical and Analytical Medicine (issn: 1309-0720, eissn: 1309-2014)
  • Related identifiers: doi: 10.4328/JCAM.4282
  • Subject: Premature ovarian failure | X chromosome abnormalities | karyotype | Medicine | R

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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