Frequency and Types of Chromosomal Abnormalities in Turkish Women with Amenorrhea

Demırhan, Osman; Tanrıverdi, Nilgün; Tunç, Erdal; Süleymanova, Dilara

doi:10.1016/j.jpag.2013.11.013

Cited by 8 publications

(15 citation statements)

References 16 publications

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“…We detected only 1 case of 46,XX,15p+ which is phenotypically normal. In a more recent study, Demirhan et al [23] analysed chromosome abnormalities in 393 women presenting with primary and secondary amenorrhea and 46,XX,15p+ was found in 1 case. As the p arm of acrocentric chromosomes has no gene, it is expected that the increasing heterochromatin material in the p arm of acrocentric chromosomes considered as a polymorphic feature does not influence phenotype.…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Ates¹,

Özcan²,

Yeşil³

2016

Ann Clin Anal Med

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“…1 These include pregnancy, hormonal disorders, endometritis, improperly functioning ovaries and mullerian dysgenesis. 4 Any alteration in the hypothalamic-pituitary-ovarian axis due to physiological, pathological and iatrogenic causes may lead to amenorrhea. 5 Another major cause of primary amenorrhea is chromosomal abnormalities as indicated by cytogenic investigation.…”

Section: Introductionmentioning

confidence: 99%

“…5 Another major cause of primary amenorrhea is chromosomal abnormalities as indicated by cytogenic investigation. 4 The reported percentage of chromosomal abnormalities varies widely due to different selection criteria and sample size of selection groups. 4 The prevalence of PA has been reported as 15.9-63.3%, while the prevalence of SA has been reported as 3.8-44.4%.…”

Section: Introductionmentioning

confidence: 99%

“…4 The reported percentage of chromosomal abnormalities varies widely due to different selection criteria and sample size of selection groups. 4 The prevalence of PA has been reported as 15.9-63.3%, while the prevalence of SA has been reported as 3.8-44.4%. 4 To make an accurate diagnosis, a systemic approach is required, starting with proper history, physical examination, pelvic ultrasound, hormonal testing and chromosomal analysis.…”

Section: Introductionmentioning

confidence: 99%

“…4 The prevalence of PA has been reported as 15.9-63.3%, while the prevalence of SA has been reported as 3.8-44.4%. 4 To make an accurate diagnosis, a systemic approach is required, starting with proper history, physical examination, pelvic ultrasound, hormonal testing and chromosomal analysis. 2 After excluding nongenetic causes, the next step, especially in PA, should be genetic evaluation.…”

Section: Introductionmentioning

confidence: 99%

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Chromosomal aberrations in women with primary and secondary amenorrhea: A cross‐sectional study

Al‐Jaroudi¹,

Hijazi²,

Bashir

et al. 2019

J of Obstet and Gynaecol

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Aim: Among women of childbearing age, about 2-5% are affected by amenorrhea that is either primary or secondary. However, there are no data regarding the frequency and type of chromosomal abnormalities associated with amenorrhea in Saudi women. The present study aims to establish the frequency and pattern of chromosomal abnormalities in primary amenorrhea (PA) and secondary amenorrhea (SA) cases in a tertiary care center, Riyadh, Saudi Arabia. Methods: This cross-sectional study was conducted between 2013 and 2016 on women referred to the Reproductive Endocrine and Infertility Medicine Department at a tertiary care center in Riyadh. Women were divided into two groups: PA and SA. After the initial diagnosis of amenorrhea based on medical history, physical examination, hormonal profile and ultrasonography, chromosome karyotype analysis was conducted on metaphase preparations following routine cytogenetics culture and harvest methods. Results: Chromosomal tests were performed for 53 patients (42 with PA and 11 with SA) out of 79 referred patients with amenorrhea. About 19% of the 42 patients with PA and 1 patient (9.1%) diagnosed as SA showed an abnormal karyotype. The most common abnormal karyotypes observed were 46, XY and 45, X. Conclusion: The present study indicates that the chromosomal analysis after the exclusion of nongenetic causes should be essentially considered for the precise diagnosis and the development of more successful management for females with amenorrhea. This study also revealed that the prevalence of chromosomal abnormalities in women with PA and SA is similar to that reported in the literature.

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Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients

Al-Ouqaili

2022

Preprint

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Background: Amenorrhea is a rare reproductive medical condition defined by the absence of menstruation during puberty or later life. This study aims to establish the frequency and pattern of chromosomal abnormalities (CA) in both primary amenorrhea (PA) and secondary amenorrhea (SA), and further to detect the genetic changes in exon 10 at nucleotide positions 919 and 2039 of the genotypes Thr307Ala, and Asn680Ser, respectively. Method: This cross-sectional study was conducted on a sample of seventy amenorrhoeic women according to the Helsinki declaration rules of medical ethics, as divided into 40 (57.14%) with PA and 30 (42.86%) with SA, and 30 healthy women with normal menstruation as the control. The chromosomal karyotyping was performed according to the ISCN, 2020. PCR products were submitted to RFLP and Sanger sequencing for women with normal karyotype and high FSH serum levels. Result: The classical Turner Syndrome was the most common CA in PA, followed by isochromosome X [46, Xi(X)(q10)], mosaicism of Turner and isochromosome X [45, X /46, Xi(X)(q10)], sex reversal (46, XY) and (46, XX,-3,+der3,-19,del 19 p). Abnormal SA cases were characterized by mosaicism Turner syndrome (45,X/46,XX) and (46,XX,-3,+der3,X,+derX). The homozygous genotypes AA and GG of Ala307Thr (rs6165) in the FSHR gene are most common in PA, while the homozygous genotype AA is more common in SA. GG and AG genotypes of Ser680Asn (rs6166) are more frequent in Iraqi patients with PA and SA compared to the healthy control women. Both PCR-RFLP and Sanger sequencing indicated a marked matching between genotypes. Conclusions: The study emphasizes the need for cytogenetic analysis to determine the genetic basis of PA and SA. Further, genotyping for women with normal karyotype and high FSH serum concentrations via PCR-RFLP should be considered for the precise diagnosis and development of appropriate management of and counselling for these patients.

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Frequency and Types of Chromosomal Abnormalities in Turkish Women with Amenorrhea

Cited by 8 publications

References 16 publications

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Chromosomal aberrations in women with primary and secondary amenorrhea: A cross‐sectional study

Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients

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