■闭经是一种罕见的生殖医学疾病,其定义是在青春期或以后的生活中没有月经。这项研究旨在确定原发性闭经(PA)和继发性闭经(SA)中染色体异常(CA)的频率和模式。并进一步检测基因型Thr307Ala的919和2039核苷酸位置外显子10的遗传变化,和Asn680Ser,分别。
■这项横断面研究是根据赫尔辛基医学伦理宣言规则对70名闭经妇女进行的,PA分为40(57.14%)和SA分为30(42.86%),和30名正常月经的健康女性作为对照。根据ISCN进行染色体核型分析,2020年。对于具有正常核型和高FSH血清水平的女性,将PCR产物提交给RFLP和Sanger测序。
■典型的特纳综合征是PA中最常见的CA,其次是同位染色体X[46,Xi(X)(q10)],Turner和同染色体X[45,X/46,Xi(X)(q10)]的镶嵌性,性逆转(46,XY)和(46,XX,-3,+der3,-19,del19p)。异常SA病例的特征是镶嵌性特纳综合征(45,X/46,XX)和(46,XX,-3,+der3,X,+derX)。FSHR基因中Ala307Thr(rs6165)的纯合基因型AA和GG在PA中最为常见,而纯合基因型AA在SA中更常见。与健康对照妇女相比,伊拉克PA和SA患者的Ser680Asn(rs6166)的GG和AG基因型更常见。PCR-RFLP和Sanger测序均表明基因型之间明显匹配。
■该研究强调需要进行细胞遗传学分析,以确定PA和SA的遗传基础。Further,对于核型正常且血清FSH浓度较高的女性,通过PCR-RFLP进行基因分型,应考虑对这些患者进行精确诊断,并制定适当的治疗和咨询.
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.
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.
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.
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.