Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency

Abstract Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics D...

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Bibliographic Details
Published in:European journal of obstetrics & gynecology and reproductive biology 2014-11, Vol.182, p.211-215
Main Authors: Geckinli, B B, Toksoy, G, Sayar, C, Soylemez, M A, Yesil, G, Aydın, H, Karaman, A, Devranoglu, B
Format: Article
Language:English
Subjects:
Adult
Amenorrhea - genetics
Aneuploidy
Chromosomes, Human, X
Female
Gonadal Dysgenesis, 46,XY - genetics
Humans
Karyotype
Mosaicism
Obstetrics and Gynecology
Primary amenorrhea
Primary ovarian insufficiency
Primary Ovarian Insufficiency - genetics
Retrospective Studies
Sex Chromosome Aberrations
Translocation, Genetic
Turkey
X-chromosome abnormalities
Young Adult
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Summary:Abstract Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey. G-banded metaphase karyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY karyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years).
ISSN:0301-2115
1872-7654
DOI:10.1016/j.ejogrb.2014.09.033