Background : Primary amenorrhea is a symptom that may result from several quite different causes such as gonadal anomalies, endocrinological imbalance and specific of genetic disorders. Primary amenorrhea is one of indications for cytogenetic analysis, which have shown the importance of chromosomal abnormalities as a cause of amenorrhea. The aim of this study is to know the distribution of karyotype in patients with primary amenorrhea in Center For Biomedical Research (CEBIOR) Medical Faculty of Diponegoro University, Semarang.
Subject and Method : This study was a descriptive retrospective and prospective study design. The subjects are patients with primary amenorrhea who examined in CEBIOR Semarang since January 2005 to April 2015.
Results : Cytogenetic analysis were carried out to 71 patients with primary amenorrhea during January 2005 to April 2015 and identified 47(65,3%) subjects with 46, XX; 9 (12,7%) subjects with 46, XY and 16 (22,2%) subjects with numerical and structural sex chromosome aberration such as 45, X, 45, X/46, XX, 1Xq, 46, XX/ 45, X (2%) dan 46,XX (99%)/ 45, X (1%), 46,X, i(X)(q10)(85%)/45, X(15%), 45,X(76%)/46, X, i(X)(q10)(24%), 47, XY+21, 46, XX,del (9)(p23)->pter, 46, XX, t(1; X)(p34; q25), 46, XX, t(1; X)(p34; q25), and 46, XX/46, XY(10%).
Conclusion : Cytogenetic analysis was done for 71 subjects and mostly subjects have 46, XX karyotype. Cytogenetic investigations are important to established the diagnoses and management for primary amenorrhea cases, although in some cases with cryptic chromosome aberrations should be investigated with molecular analysis.
Keywords : Primary amenorrhea, Cytogenetic analysi
