Publications

Amenorrhea is the absence of menstrual bleeding in women of reproductive age. From the literature it is evident that not only chromosomal abnormalities contribute to the aetiology of amenorrhea but an underlying defect in the genes for the gonadotrophic hormones or their receptors could result in amenorrhea. Aim: To review the incidence and types of chromosomal abnormalities seen in those patients with amenorrhea referred for karyotyping. Materials & and Methods: The karyotypes of female patients with amenorrhea referred from January 2006 to June 2012 were retrospectively analysed. Results: Routine analysis by GTG banding of the metaphases from peripheral blood lymphocytes showed that of the total number of patients with amenorrhea (n=317), 41 of them had an abnormal karyotype. These included 8 structural abnormalities, 24 numerical abnormalities and 9 cases of 46,XY (female). Conclusion: The most common abnormality seen is 45,X karyotype (Monosomy X/Turner Syndrome) and its variants. Karyotyping is an essential diagnostic test that needs to be done, not only to define the aetiology, but also to aid in management and counselling of the patient. Of the 317 cases with amenorrhea, 276 of them had a normal female karyotype which meant that apart from chromosomal defects, there were other causes at a gene level that need to be explored. As the menstrual cycle is a complex interaction of hormones, the possibility of mutations in genes coding for the gonadotropins, hormones or receptors resulting in amenorrhea exists..