DOI: https://doi.org/10.14710/jbtr.v4i1.2546

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

1Diponegoro University, Libya

2Faculty of Medicine Diponegoro University, Indonesia

Received: 19 Apr 2018; Published: 31 Jul 2018.
Open Access Copyright (c) 2018 Journal of Biomedicine and Translational Research

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Abstract

Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders. 

Aim of study: This study provided the clinical and cytogenetic profiles of Indonesian primary amenorrhea patients and introduced clinical criteria of those patients with their  karyotype results using score system.  

Methods: A retrospective descriptive study of 79 PA patients, whom referred to Cytogenetic and Molecular unit Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University. We made a scoring system consisted of 4 scores, all patients had been distributed to match the scores according to their clinical criterias and then confirmed with the karyotype results.  

Results: The karyotype results of 79 patients of PA revealed 55 (69.6%) patients with female karyotype 46,XX; 6 (7.6%) patients with male karyotype 46,XY; 8(10.1%) patients with monosomy X; 3 (3.8%) patients with 45,X/46,XX; 3 (3.8%) patients with  Isochromosome 45 X/46, X,i(Xq). Mosaicism with  Y  constitution 45,X/46,XY  was seen in 2 (2.5%) patients;  marker chromosome 45,X/46,X+mar (2%) in 1 patient (1.3%); and  chromosome 1 and  X translocation 46,XX,t(1;X)(p34;q25) detected in 

1(1.3%) patient. Scoring system results showed that all patients with normal karyotype (46,XX/46,XY) were matched with score 1 and 2 while 17 patients with chromosomal abnormalities were matched with score 3 and 4, only 1 patient with mosaic Turner syndrome 45,X(10%)/46,XX(90%) matched score 1. 

Conclusion: Turner syndrome was the most common cause of primary amenorrhea which attests the importance of cytogenetic analysis for diagnosis of primary amenorrhea patients. The scoring system needs further validated for measuring reliability and validity.
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Keywords: primary amenorrhea; karyotype; clinical phenotype; score system

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  11. Chandrayan P, Parekh U, Jain N, Chandrayan P. Mullerian duct anomalies presenting with primary amenorrhoea.Journal of Reproduction, Contraception, obstetrics and gynecology; 2016;5(2):300-350
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  14. Allahbadia G, Human F. An Update on the Causes of Primary and Secondary Amenorrhea along with Aetiopathogenesis and Therapeutic Management Monograph Series. avid Sci Monogr Ser. 2016;9(6)
  15. Master-hunter T, Medical M, Arbor A. Amenorrhea : Evaluation and Treatment Am Fam Physician;2006; 4 (8): 25-30
  16. Gürsoy S, Kılıçarslan ÖA, Bozkaya ÖG, Bora E, Ünal N, Erçal D. Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome : Are We Aware Enough ? Erciyes Med journal ; 2017;39(1):12-5
  17. Kim KS, Kim J. Disorders of Sex Development. Korean Journal of Urology
  18. ;53(1):1-8
  19. Leppig KA, Disteche CM. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. Semin Reprod Med. 2001;19:147–
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  23. Marzuki NS, Anggaratri HW, Suciati LP, Ambarwati DD, Paramayuda C, Kartapradja H, et al. Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X. Mol Cytogenet; 2011;4(1):23
  24. Motos M, Mendoza N. Androgen insensitivity syndrome Androgen insensitivity syndrome.Journals Endocrinolgy; 2014; 1(2), 20-25
  25. Cox L, Liu JH. Primary ovarian insufficiency : an update.international Journal of Women Health; 2014;235–43
  26. Parikh RM, Nakum K, Kadikar GK, Gokhle A V. Mullerian anomalies : a cause of primary amenorrhea.Int J Reprod Contracept Obstet Gynecol. 2013;2(3):3–7
  27. Mamoojee Y, Jones P, Stewart J, Choudhary M, Quinton R. Spontaneous resolution of secondary amenorrhoea in a patient with mosaic Turner ’ s Syndrome. Journal Endocrine Abstracts; 2016;3(2);52-59
  28. Kwon S, Chae H, Lee K, Kim S, Kim C, Kang B. Causes of amenorrhea in Korea : Experience of a single large center.clinical and experimental medicine journal; 2014;41(1):29–32

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