Cytogenetic abnormalities in Tunisian women with premature ovarian failure

Anomalies chromosomiques et insuffisance ovarienne prématurée en Tunisie

Wiem Ayed (1, 2) , Ahlem Amouri (1, 2) , Wajih Hammami (1, 2) , Olfa Kilani (1, 2) , Zinet Turki (3) , Fatma Harzallah (4) , Nouha Bouayed-Abdelmoula (5) , Imen Chemkhi (2) , Fethi Zhioua (6) , Claude Ben Slama (3)

1 UTM - Université de Tunis El Manar
2 Institut Pasteur de Tunis
3 Hôpital La Rabta [Tunis]
4 Hôpital régional Mahmoud El Matri
5 Département d’histologie embryologie
6 Aziza Othmana, University Hospital

To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. (C) 2014 Academie des sciences. Published by Elsevier Masson SAS. All rights reserved.

Keywords: Amenorrhoea; Karyotype; Premature ovarian failure; X Chromosome abnormalities

Domains: Life Sciences [q-bio]; Human genetics

Wiem Ayed, Ahlem Amouri, Wajih Hammami, Olfa Kilani, Zinet Turki, et al.. Cytogenetic abnormalities in Tunisian women with premature ovarian failure. Comptes Rendus Biologies, 2014, 337 (12), pp.691-694. ⟨10.1016/j.crvi.2014.09.003⟩. ⟨pasteur-01375057⟩