skip to main content

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

Citation Format:

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.
Fulltext View|Download
Keywords: primary amenorrhea; karyotype; clinical phenotype; score system

Article Metrics:

  1. Anagani M, Agrawal P, Radhika B, Sridevi D, Karee M (2017) Primary Amenorrhea - A One Year Review. Obstet Gynecol Int J 2017:6(1):2–5
  2. Merin T, Rema D, Preetha T, Amudha S, Jayalakshamma J, Mary M. Amenorrhea : Cytogenetic Studies and Beyond.American Journal of Molecular and Cellular Biology2012; 1: 25-37
  3. Tahir M.Malla, Fayaz A.Dar, Arshad A. Frequency and pattern of cytogenetic alterations in primary amenorrhea patients of Kashmir , North India. Egypt J Med Hum Genet. 2016;17(1):25–31
  4. 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.Journal of medicine, 2011;19(2):51–60
  5. Practice T, Medicine R. Current evaluation of amenorrhea. Journal of sterility and fertility;2008;90(5):21–25
  6. Vijayalakshmi J, Koshy T, Kaur H, Mary FA, Selvi R, Parvathi VD, et al. Cytogenetic Analysis of Patients with Primary Amenorrhea. Int J Hum Genet 2010;10(3):71-76
  7. Jahan S, Shermin S, Habib SH, Nayer R. Gynecology & Obstetrics Kallmann ’ s Syndrome : A Rare Cause of Primary Amenorrhoea.Journal Gynecol Obstet;2014;4(9)
  8. Klein D, Poth M. Amenorrhea: An Approach to Diagnosis and Management.Am Fam Physician. 2013;87(11):781-788
  9. Leelavathy Nanjappa, Sayee Rajangam et al. Genotype – Phenotype Correlation in 46 , XY Females.KuwaitMedical Journal; 2008;40 (3): 225-229
  10. Hasan A, Hakan T, M. Hamza M.A New Female Patient with 47 , XXY Karyotype and SRY. Andrology-Open Access; 2016;5(1):10–13
  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
  12. Pokale Y, Jadhav A, Kalthe B, Kate U. A patient of primary amenorrhea with 46 , XY Karyotype : Androgen insensitivity syndrome (AIS).international journal of pharmacy and Biological Sciences.2013;5(5):2278-3008
  13. Okafor et al. Imperforate Hymen Presenting with Massive Hematometra and Hematocolpos : A case Report., Gynecol Obstet ; 2015;5(10):328
  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–
  20. Vitek WS, Pagidas K, Gu G, Pepperell JR, Simpson JL, Tantravahi U, et al. Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX. J Assist Reprod Genet. 2012; 29 ( 1): 63– 66)
  21. Utiïrrez et al.prevalence of chromosomal abrration in Mexican women with primary amenorrhea. Reprod Biomed online;2007
  22. 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
  23. Motos M, Mendoza N. Androgen insensitivity syndrome Androgen insensitivity syndrome.Journals Endocrinolgy; 2014; 1(2), 20-25
  24. Cox L, Liu JH. Primary ovarian insufficiency : an Journal of Women Health; 2014;235–43
  25. 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
  26. 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
  27. 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

Last update:

No citation recorded.

Last update:

No citation recorded.