Cytogenetic abnormalities in Tunisian women with premature ovarian failure

Ayed, Wiem; Amouri, Ahlem; Hammami, Wajih; Kilani, O.; Turki, Z.; Harzallah, F.; Abdelmoula, Nouha Bouayed; Chemkhi, Imen; Zhioua, Fethi; Slama, C. Ben

doi:10.1016/j.crvi.2014.09.003

Cited by 13 publications

(10 citation statements)

References 23 publications

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“…Wu et al [20] found X chromosome mosaicism in 5 (8.2%) of the 65 women with POI in their study. Our results are in accordance with those reported by Ayed et al [21]. They reported mosaicism with a 45,X line as the most frequently detected anomaly in women with POI and also reported that the prevalence of 47,XXX in 100 POI cases was 3%, including two mosaic and one non-mosaic.…”

Section: Discussionsupporting

confidence: 83%

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Ates¹,

Özcan²,

Yeşil³

2016

Ann Clin Anal Med

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ÖzetAmaç: Prematür over yetmezliği (POY) 40 yaşından önce gözlenen, 6 ay veya daha uzun süre adet görememe, serum folikül stimüle edici hormon yüksekli-ği ve düşük serum estradiol düzeyi ile tanımlanan bir durumdur. Bu çalışma-da amaç POY tanısı alan olgularda kromozom anomali tipleri ve sıklığı araş- Anahtar KelimelerPrematür Over Yetmezliği; X Kromozom Anomalisi; Karyotip; Mosaism Abstract 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's age, cytogenetic investigations should be routinely performed in cases with POI.

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Section: Discussionsupporting

confidence: 83%

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Ates¹,

Özcan²,

Yeşil³

2016

Ann Clin Anal Med

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“… Reference Frequency of CA (%) No. of CA Sample size Clinical characteristics Population Ayed et al (2014) 18.0 18 100 PA, SA Tunisian Kalantari et al (2013) 10.05 18 179 PA, SA Iranian Jiao et al (2012) 12.1 64 531 PA, SA Chinese (Jinan, Beijing, Shenzhen) Baronchelli et al (2011) 10.0 27 269 PA, SA, EM Italian Lakhal et al (2010a) 10.8 108 1000 PA, SA Tunisian Ceylaner et al (2010) 25.3 19 a 75 SA Turkish Janse et al (2010) 12.9 19 147 SA Dutch Portnoi et al (2006) 8.8 8 90 …”

Section: Resultsmentioning

confidence: 99%

Genetics of primary ovarian insufficiency: new developments and opportunities

Qin

Jin

Simpson

et al. 2015

Hum. Reprod. Update

415

353

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BACKGROUNDPrimary ovarian insufficiency (POI) is characterized by marked heterogeneity, but with a significant genetic contribution. Identifying exact causative genes has been challenging, with many discoveries not replicated. It is timely to take stock of the field, outlining the progress made, framing the controversies and anticipating future directions in elucidating the genetics of POI.METHODSA search for original articles published up to May 2015 was performed using PubMed and Google Scholar, identifying studies on the genetic etiology of POI. Studies were included if chromosomal analysis, candidate gene screening and a genome-wide study were conducted. Articles identified were restricted to English language full-text papers.RESULTSChromosomal abnormalities have long been recognized as a frequent cause of POI, with a currently estimated prevalence of 10–13%. Using the traditional karyotype methodology, monosomy X, mosaicism, X chromosome deletions and rearrangements, X-autosome translocations, and isochromosomes have been detected. Based on candidate gene studies, single gene perturbations unequivocally having a deleterious effect in at least one population include Bone morphogenetic protein 15 (BMP15), Progesterone receptor membrane component 1 (PGRMC1), and Fragile X mental retardation 1 (FMR1) premutation on the X chromosome; Growth differentiation factor 9 (GDF9), Folliculogenesis specific bHLH transcription factor (FIGLA), Newborn ovary homeobox gene (NOBOX), Nuclear receptor subfamily 5, group A, member 1 (NR5A1) and Nanos homolog 3 (NANOS3) seem likely as well, but mostly being found in no more than 1–2% of a single population studied. Whole genome approaches have utilized genome-wide association studies (GWAS) to reveal loci not predicted on the basis of a candidate gene, but it remains difficult to locate causative genes and susceptible loci were not always replicated. Cytogenomic methods (array CGH) have identified other regions of interest but studies have not shown consistent results, the resolution of arrays has varied and replication is uncommon. Whole-exome sequencing in non-syndromic POI kindreds has only recently begun, revealing mutations in the Stromal antigen 3 (STAG3), Synaptonemal complex central element 1 (SYCE1), minichromosome maintenance complex component 8 and 9 (MCM8, MCM9) and ATP-dependent DNA helicase homolog (HFM1) genes. Given the slow progress in candidate-gene analysis and relatively small sample sizes available for GWAS, family-based whole exome and whole genome sequencing appear to be the most promising approaches for detecting potential genes responsible for POI.CONCLUSIONTaken together, the cytogenetic, cytogenomic (array CGH) and exome sequencing approaches have revealed a genetic causation in ∼20–25% of POI cases. Uncovering the remainder of the causative genes will be facilitated not only by whole genome approaches involving larger cohorts in multiple populations but also incorporating environmental exposures and exploring signaling pathways in intragenic and interge...

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“…(1,19) HRT is also beneficial for quality of life and sexual function (Chart 1). (20,18) Chart 1. Indication for HRT in women with POI…”

Section: What Are the Image Tests Indicated In The Poi Investigation?mentioning

confidence: 99%