Cytogenetic Analysis of Patients with Primary Amenorrheain Southwest of Iran

Background and objectives: primary amenorrhea is not a disease but a symptom that mayresult from several quite different causes. common hormonal cause of primary amenorrheaincludes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease andabsent ovarian function. the aim of this study was to estimate the incidence of the chromosomalabnormality referred for karyotyping in patients with primary amenorrhea in southwest of iran.material and methods: chromosomal analysis was carried out in 220 such cases that werereferred from different parts of the south of iran. the standard protocol for peripheral bloodlymphocyte culture was followed for metaphase chromosome preparation and conventional analysisof g-banded chromosome.results: the frequency of abnormal karyotypes was 20% in primary amenorrhea. thechromosomal abnormalities can be classified into five main types with or without mosaicism. 1-themost frequent karyotype was x chromosome aneuploidies (10%,n=22) 2-male karyotype 46, xy waspresent in 5.5 % (n=12). 3-structural anomalies of the x chromosome were detected in 3.2% (n=7). 4-mosaicism of male chromosome constitution and x chromosome aneuploidy was present in two(0.9%) cases (45xo/46xy). 5-mosaicism of x chromosome aneuploidy and structural anomalies ofx chromosome was found in one (0.45%) case [45, x/46x, i (xq)].conclusion: the present study has emphasized that karyotyping is necessary in evaluationof primary amenorrhea. this study also revealed the incidence of chromosomal abnormalitiesin women with primary amenorrhea in southwest of iran is similar to that reported in previousliteratures.