Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

Ali, Aisha; Indriyati, Rita; Winarni, Tri Indah; Faradz, Sultana Mh

doi:10.14710/jbtr.v4i1.2546

Cited by 6 publications

(5 citation statements)

References 12 publications

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“…Short stature and delayed puberty, and lack of incidence of secondary sexual characteristics were significant clinical symptoms amongst these patients. This result was in line with previous studies, which reported that TS is the most commonly observed CA in PA, and also strengthened the role of the sex chromosome in the reproduction of females [17,25,28]. In this study, out of 30 cases of SA, two (6.6%) revealed a variety of CA.…”

Section: Discussionsupporting

confidence: 92%

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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Section: Discussionsupporting

confidence: 92%

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

Al-Ouqaili

2022

Preprint

View full text Add to dashboard Cite

show abstract

“…Short stature and delayed puberty, and lack of incidence of secondary sexual characteristics were significant clinical symptoms amongst these patients. This result was in line with previous studies, which reported that TS is the most commonly observed CA in PA, and also strengthened the role of the sex chromosome in the reproduction of females ( Ali et al, 2018 ; Lekha et al, 2020 ; Soltani, Mirzaei & Ayatollahi, 2021 ).…”

Section: Discussionsupporting

confidence: 92%

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

Kanaan

Al-Ouqaili

Murshid

2023

PeerJ

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Objective 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. Design, settings and patients 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. Results 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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“…16 Our study had a no patients with a typical Turner syndrome although mosaic variants were seen more commonly. Turners was attributed as the most common cause for PA. 17 Female patients can be offered advanced therapies like hormone therapy and marriage counseling. 16 Psychological support being the utmost important and central to genetic counseling.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic Abnormalities Identified in Cases of Amenorrhea

Vijay,

Amudha,

Tilak

et al. 2024

Journal of South Asian Federation of Obstetrics and Gynaecology

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Introduction: Amenorrhea has been described as the cessation or absence of the menses. Two types described in the literature are primary and secondary amenorrhea (SA). Although there are known similarities in the causation for the two types of amenorrhea, the conditions warrant timed evaluation. Aims and objectives: To determine the cytogenetic abnormalities in women with amenorrhea who presented in a tertiary health care hospital, South India. Materials and methods: This was retrospective descriptive record study. Patients with amenorrhea who had presented themselves for karyotyping at St. John's Medical College and Hospital were included in the study. The study included all patients during the past 1.5 years (January 1, 2020 to June 30, 2021). Results: A total of 54 patients presented to the Division of Human Genetics for cytogenetic analysis over a period of 2.5 years with history of amenorrhea. Out of the 54 patients, 11 patients had cytogenetical abnormalities and the others had a normal karyotype. And 9 (82%) patients presented with primary amenorrhea (PA) and 2 (18%) presented with SA out of the 11 who presented with amenorrhea. The mean age of the study subjects was 22 ± 6.7 years. Peripheral blood was the specimen that was analyzed in the 11 patients. About 36% of the patients had a history of being born of a consanguineous marriage out of the 11 patients. Conclusion:This study shows the possible cytogenetic abnormalities that are present in women in a case of amenorrhea. Although most women presenting with amenorrhea have a normal karyotype, its testing remains vital for genetic counseling. Key message: This article is one of the most recent studies that identified the various genetic mutations in women presenting with amenorrhea in an Indian population.

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Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

Cited by 6 publications

References 12 publications

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

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

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

Cytogenetic Abnormalities Identified in Cases of Amenorrhea

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