Cytogenetic investigation and Clinical Phenotype of patients with primary amenorrhea in Kermanshah Province, west of Iran

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 575

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شناسه ملی سند علمی:

GCMED08_031

تاریخ نمایه سازی: 10 دی 1398

چکیده مقاله:

Background and Aim : Amenorrhea is the absence of menstruation in women of reproductive age. It is the sixth major cause of infertility in women. Primary amenorrhea (PA) is considered to have multiple etiological factors. Cytogenetic analysis suggested the critical role of chromosomal anomalies in primary amenorrhea.This is the first study which aims to determine the frequency and types of the chromosomal abnormality in individuals with primary amenorrhea (PA) in the west of part of Iran.Methods : We took written consent form all participants. Then the peripheral blood was obtained from a total of 140 cases with primary amenorrhea. After lymphocyte culturing, giemsa–trypsin banding chromosome analysis was done according to standard methodsResults : The cytogenetic analysis of 140 patients with primary amenorrhea revealed that 100 women (71.5%) were normal and chromosomal abnormalities were seen in 40 patients (28.5%). male karyotype (46,XY and 45,X/46,XY) were observed in 10 (25%) patients. Moreover, the frequency of the other chromosomal abnormalities were as follow: Turner Syndrom (pure and mosaics form) was seen in 6 patients; 1 (2.5%) patients was super female; 5 (12.5%) patients have Isochromosome 45, XO/46, X,i(Xq) and46, X,i(Xq) . partial deletion of x chromosome were observed in 3 cases and also we detected 1 and 14 woman with autosomal translocation and heteromorphisms, respectively.Conclusion : Based on the present study, it can be proposed that cytogenetic analysis can be considered as integral part of precise diagnosis, counseling and appropriate management for these patients.

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نویسندگان

Nazanin Jalilian

department of Clinical Biochemistry, School of Medicine, Kermanshah University of Medical Sciences

Reza Alibakhshi

department of Clinical Biochemistry, School of Medicine, Kermanshah University of Medical Sciences

Parham Nejati

Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran

Sara Hamani

Medical Genetics Laboratory , Reference Laboratory, Kermanshah University of Medical Sciences , Kermanshah, Iran

Narges Mir-Ahadi

Medical Genetics Laboratory , Reference Laboratory, Kermanshah University of Medical Sciences , Kermanshah, Iran