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Motamedirad N, Hosseini S, Ebrahimzadeh-Vesal R, Tootian S, Abbaszadegan M. Investigation of the Frequency and Type of Chromosomal Abnormalities in Women Patients with Amenorrhea. rbmb.net 2022; 11 (3) :450-456
URL: http://rbmb.net/article-1-979-en.html
Pardis Clinical and Genetics Laboratory, Mashhad, Iran & Immunology Research Center, Mashhad University Medical Sciences, Mashhad, Iran.
Abstract:   (1685 Views)
Background: Amenorrhea is defined as the absence of menstruation at the reproductive age of women. Amenorrhea caused by various etiological factors including genetic factors, intrauterine malformations, endocrine dysfunction, and environmental factors. Genetic factors particularly chromosomal abnormalities are the main cause of Amenorrhea. This study was performed to estimate the frequency and types of chromosomal abnormalities in patients with amenorrhea in the northeast of Iran.

Methods: A total of 381 women with the history of amenorrhea participated in this study. Peripheral blood lymphocyte cultures were performed according to the standard GTG banding method.

Results:296 (77%) of a total of all cases had a normal karyotype (46, XX) while 85 patients (23%) had abnormal karyotype. The numerical and structural abnormalities of X chromosome were observed in 52 (61%), the abnormalities of Y chromosome were observed in 23 (27.2%) and rearrangements between autosomal and/or sex chromosomes were observed in 10 (11.8%).

Conclusions: The present study revealed that cytogenetic study is essential for early diagnosis and treatments of Amenorrhea.
Full-Text [PDF 221 kb]   (1225 Downloads)    
Type of Article: Original Article | Subject: Molecular Biology
Received: 2022/06/19 | Accepted: 2022/06/29 | Published: 2022/12/31

References
1. Ghosh S, Roy S, Halder A. Study of frequency and types of chromosomal abnormalities in phenotypically female patients with amenorrhea in Eastern Indian population. J Obstet Gynaecol Res. 2020;46(9):1627-1638. [DOI:10.1111/jog.14318] [PMID]
2. Practice Committee of American Society for Reproductive Medicine. Current evaluation of amenorrhea. Fertil Steril. 2008;90(5 Suppl):S219-25. [DOI:10.1016/j.fertnstert.2008.08.038] [PMID]
3. Soltani N, Mirzaei F, Ayatollahi H. Cytogenetic Study of Patients with Primary Amenorrhea in the Northeast of Iran. Iran J Pathol. 2021;16(1):57-61. [DOI:10.30699/ijp.2020.115747.2258] [PMID] [PMCID]
4. Kara N, Tural S, Elbistan M, Karakus N, Guven D, Kocak I. Cytogenetic findings of patients with Amenorrhea in Turkish population: A retrospective study. Int J Hum Genet. 2012;12(2):87-92. [DOI:10.1080/09723757.2012.11886167]
5. Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances AM, et al. Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol. 2010;8:28. [DOI:10.1186/1477-7827-8-28] [PMID] [PMCID]
6. Dutta UR, Ponnala R, Pidugu VK, Dalal AB. Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India. Arch Iran Med. 2013;16(5):267-70.
7. Malla TM, Dar FA, Pandith AA, Zargar MH. Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India. Egypt J Med Hum Genet. 2016;17(1):25-31. [DOI:10.1016/j.ejmhg.2015.07.005]
8. Merin T, Rema D, Preetha T, Amudha S, Jayalakshamma J, Mary M. Amenorrhea: Cytogenetic studies and beyond. Am J Mol Cell Biol. 2012;1:25-32. [DOI:10.7726/ajmcb.2012.1003]
9. Pal AK, Ambulkar PS, Sontakke BR, Talhar SS, Bokariya P, Gujar VK. A study on chromosomal analysis of patients with primary amenorrhea. J Hum Reprod Sci. 2019;12(1):29-34. [DOI:10.4103/jhrs.JHRS_125_17] [PMID] [PMCID]
10. Ghazaey S, Keify F, Mirzaei F, Maleki M, Tootian S, Ahadian M, Abbaszadegan MR. Chromosomal analysis of couples with repeated spontaneous abortions in northeastern Iran. Int J Fertil Steril. 2015;9(1):47-54.
11. Demirhan O, Tanrıverdi N, Tunç E, Inandıklıoğlu N, Süleymanova D. Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea. J Pediatr Adolesc Gynecol. 2014;27(5):274-7. [DOI:10.1016/j.jpag.2013.11.013] [PMID]
12. Kalavathi V, Chandra N, Nambiar GR, Shanker J, Sugunashankari P, Meena J, et al. Chromosomal abnormalities in 979 cases of amenorrhea: A review. Int J Hum Genet. 2010;10(1-3):65-69. [DOI:10.1080/09723757.2010.11886086]
13. Rajangam S, Nanjappa L. Cytogenetic studies in amenorrhea. Saudi Med J. 2007;28(2):187-92.
14. Mohajertehran F, Ghodsi K, Hafizi L, Rezaee A. Frequency and the type of chromosomal abnormalities in patients with primary amenorrhea in northeast of Iran. Iran J Basic Med Sci. 2013;16(4):634-9.
15. Roy AK, Banerjee D. Cytogenetic study of primary amenorrhoea. J Indian Med Assoc. 1995;93(8):291-2.
16. Wong MS, Lam ST. Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study. Hong Kong Med J. 2005;11(4):267-72.
17. Kong H, Ge Y, Wu Q, Wu H, Zhou D, Shen Y, et al. Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization. Chin J Med Genet. 2007;24(3):256-60.
18. Butnariu L, Covic M, Ivanov I, Bujoran C, Gramescu M, Gorduza EV. Clinical and cytogenetic correlation in primary and secondary amenorrhea: retrospective study on 531 patients. Rev Română de Medicină de Lab. 2011;19(2/4).
19. Agacayak E, Icen MS, Tunc SY, EVSEN MS, Kalkani S, Basaranoglu S. The frequency and the type of different etiological factors in primary amenorrhea. Acta Medica Mediterranea. 2014;30(2):383-7.
20. Simpson JL, Elias S. Genetics in obstetrics and gynecology: WB Saunders Company; 3rd edn,2003.
21. Amer Abed F, Ezzat Maroof R, Al-Nakkash U. Comparing the Diagnostic Accuracy of Anti-Müllerian Hormone and Follicle Stimulating Hormone in Detecting Premature Ovarian Failure in Iraqi Women by ROC Analysis. Rep Biochem Mol Biol. 2019;8(2):126-131.
22. Hughes IA. Disorders of sex development: a new definition and classification. Best practice & research Clinical endocrinology & metabolism. 2008;22(1):119-34. [DOI:10.1016/j.beem.2007.11.001] [PMID]
23. Shojaei A, Ebrahimzadeh-Vesal R, Ahani A, Razzaghy-Azar M, Khakpour G, Ghazi F, Tavakkoly-Bazzaz J. Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development. Rep Biochem Mol Biol. 2017;6(1):59-65.
24. Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol. 2007;5(71):1-5. [DOI:10.1186/1477-7819-5-71] [PMID] [PMCID]
25. Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010;94(1):105-13. [DOI:10.1016/j.fertnstert.2009.02.087] [PMID]
26. Tullu MS, Arora P, Parmar RC, Muranjan MN, Bharucha BA. Ovarian dysgenesis with balanced autosomal translocation. J Postgrad Med. 2001;47(2):113-5.

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