Pal Asoke K, Ambulkar Prafulla S, Sontakke Bharat R, Talhar Shweta S, Bokariya Pradeep, Gujar Vijay K
Human Genetics Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India.
J Hum Reprod Sci. 2019 Jan-Mar;12(1):29-34. doi: 10.4103/jhrs.JHRS_125_17.
Primary amenorrhea is one of the most common disorders seen as gynecological problems in adolescent girls. It refers to the participants who did not attain menarche by the age of 11-15 years. Chromosome abnormalities contribute as one of the etiological factors in patients with primary amenorrhea.
The aim of this study was to evaluate the frequency of chromosomal abnormalities and to investigate the abnormal karyotypes in patients referred with the symptom of primary amenorrhea for better management and counseling.
One hundred and seventy-four cases of primary amenorrhea were referred from the obstetrics and gynecology department to our cytogenetic laboratory for chromosomal analysis. G-banded chromosomes were karyotyped, and chromosomal analysis of all patients was done.
Out of 174 patients, we observed 23 (13.22%) participants with abnormal karyotype. In 23 cases of chromosomal abnormalities, 10 cases were sex reversal female (46,XY) and Turner karyotype (45,X) in 6 females. Other numerical and structural abnormalities were also seen such as 47,XXX; 45,X/47,XXX; 45,X/46, X,dic(X); 46,XX, inv (9); 45,X/46,X,i(Xq); 46,X,mar(X); and 45,X/46,XY in the primary amenorrhea cases.
This study definitely attests the importance of chromosomal analysis in the etiologic diagnosis of primary amenorrhea patients. Karyotyping will help to counsel and manage the cases of primary amenorrhea in a better way. This study reveals the frequencies and different types of chromosomal abnormalities found in primary amenorrhea individuals and that might help to make the national database on primary amenorrhea in relation to chromosomal aberrations.
原发性闭经是青春期女孩中最常见的妇科问题之一。它指的是11至15岁仍未初潮的个体。染色体异常是原发性闭经患者的病因之一。
本研究旨在评估染色体异常的发生率，并调查以原发性闭经症状转诊患者的异常核型，以便更好地进行管理和咨询。
174例原发性闭经患者从妇产科转诊至我们的细胞遗传学实验室进行染色体分析。对G显带染色体进行核型分析，并对所有患者进行染色体分析。
在174例患者中，我们观察到23例（13.22%）核型异常。在23例染色体异常中，10例为性反转女性（46,XY），6例为特纳核型（45,X）。在原发性闭经病例中还观察到其他数目和结构异常，如47,XXX；45,X/47,XXX；45,X/46,X,dic(X)；46,XX,inv(9)；45,X/46,X,i(Xq)；46,X,mar(X)；以及45,X/46,XY。
本研究明确证实了染色体分析在原发性闭经患者病因诊断中的重要性。核型分析将有助于更好地对原发性闭经病例进行咨询和管理。本研究揭示了原发性闭经个体中发现的染色体异常的发生率和不同类型，这可能有助于建立关于原发性闭经与染色体畸变相关的国家数据库。
