■原发性闭经(PA)是指青春期女孩没有自然达到月经初潮的疾病。它是指定的最常见的妇科疾病之一。染色体异常在PA中起关键作用。细胞遗传学分析是确定染色体异常必不可少的诊断工具。在像印度这样的新兴国家,细胞遗传学分析处于起步阶段。印度东部对细胞遗传学的研究很少,包括西孟加拉邦.在农村和郊区,PA患者经常经历晚期诊断,并努力获得合适的治疗方法。这项研究的目的是准确评估患有PA的患者的各种类型的染色体异常,更好地管理同样和进一步的咨询。
■产科医生和妇科医生共将40例PA病例转介给Nirnayan卫生保健遗传学系,加尔各答.为了筛查染色体异常,使用外周静脉血完成人白细胞培养,然后进行G显带,然后根据ISCN-2020进行核型分析.
■在40名患者中,29例正常,其中70%(n=28)发现46,XX,46,XX,9qh+在2.5%(n=1)。其余11例表现出不同类型的异常。45,X为10%(n=4),46,X,I(X)(q10)在2.5%(n=1)中,46,X,del(X)(p11.2)在2.5%(n=1)中,46,X,del(X)(p22.1)在2.5%(n=1)中,46,X,del(X)(q24)在2.5%(n=1)中,46,XY为2.5%(n=1),mos45,X[22]/46,Xi(X)(q.10)[8]为2.5%(n=1),mos45,X[16]/46,XY[14](2.5%)为2.5%(n=1)。
■这项研究表明染色体研究的重要性,必须包括在PA的早期诊断中。在生命的适当阶段进行核型分析不仅有助于对这种疾病的司法管理,而且还将为年轻女孩提供更好的生活方式。
原发性闭经是青春期少女常见的妇科疾病,常与染色体异常有关.在印度东部,包括西孟加拉邦,细胞遗传学分析仍处于起步阶段,晚期诊断和获得治疗的机会有限是普遍存在的问题.2021年1月至2023年5月在NirnayanHealthcare进行的一项研究,加尔各答旨在评估40例PA患者的染色体异常。在这些中,28例显示正常核型(46,XX);1例报告为46,XX,9qh+被认为是正常核型,而其余11例显示出各种异常,包括45,X;性别逆转和几个结构变化。该研究强调了细胞遗传学分析在原发性闭经早期诊断中的重要性。早期的核型分析不仅有助于明智的管理,而且还确保受影响的女孩有更好的生活方式。
UNASSIGNED: Primary amenorrhoea (PA) refers to an ailment when adolescent girls do not attain menarche naturally. It is one of the most common gynaecological disorders specified. Chromosomal abnormalities play a pivotal role in PA. Cytogenetic analysis is an indispensable diagnostic tool to determine the abnormality of the chromosome. In an emerging country like India, cytogenetic analysis is at a nascent stage. There are very few studies on Cytogenetics present in eastern India, including West Bengal. In rural and suburban areas PA sufferers often experience late diagnosis and struggle to access suitable curative management. The aim of the
study is to evaluate the various types of chromosomal abnormalities in patients suffering from PA for accurate, better management of the same and further counselling.
UNASSIGNED: A total of 40 PA cases were referred by obstetricians and gynaecologists to the Department of Genetics of Nirnayan Health Care, Kolkata. To screen the chromosomal abnormalities, human leukocyte culture was accomplished with their peripheral venous blood followed by G-banding and then
karyotyping was executed according to ISCN-2020.
UNASSIGNED: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). The remaining 11 showed different types of abnormalities. 45,X was found in 10% (n = 4), 46,X,i(X)(q10) in 2.5% (n = 1), 46,X,del(X)(p11.2) in 2.5% (n = 1), 46,X,del(X)(p22.1) in 2.5% (n = 1), 46,X,del(X)(q24) in 2.5% (n = 1), 46,XY in 2.5% (n = 1), mos 45,X[22]/46,Xi(X)(q.10)[8] in 2.5% (n = 1) and mos 45,X[16]/46,XY[14] (2.5%) in 2.5% (n = 1).
UNASSIGNED: This
study indicates the importance of chromosomal
study which must be included in early diagnosis of PA.
Karyotyping at the appropriate phase of life will not only help in the judicial management of this disorder but will also give young girls a better lifestyle.
Primary amenorrhoea is a common gynecological disorder reported in adolescent girls, often linked to chromosomal abnormalities. In Eastern India, including West Bengal, where cytogenetic analysis is still in its nascent stage, late diagnosis and limited access to curative management are prevalent issues. A study conducted from January 2021 to May 2023 at Nirnayan Healthcare, Kolkata aimed to evaluate chromosomal abnormalities in 40 PA cases. Out of these, 28 exhibited normal karyotypes (46,XX); one patient was reported with 46,XX,9qh + which is considered a normal karyotype, while the remaining 11 revealed diverse abnormalities, including 45,X; sex reversal & several structural variations. The study underscores the significance of cytogenetic analysis in the early diagnosis of Primary Amenorrhoea. Early
karyotyping not only facilitates judicious management but also ensures a better lifestyle for affected girls.