A FAMILIAL CASE OF X-CHROMOSOME DELETION ASCERTAINED BY CYTOGENETIC SCREENING OF WOMEN WITH PREMATURE OVARIAN FAILURE

The association between X chromosome deletions and premature ovarian f ailure is well established. Previous anecdotal reports however, have n ot documented the prevalence of X deletions in women with premature ov arian failure. We therefore performed cytogenetic analyses on 79 women with primary or secondary amenorrhoea to assess the utility of screen ing for a genetic marker for familial premature ovarian failure. A nor mal karyotype was found in 77 women. One woman with primary amenorrhoe a had an XY karyotype and a woman with secondary amenorrhoea had a del etion at Xq 26.1. This second case had a family history of premature o varian failure, and her mother who underwent premature ovarian failure at 28 Sears shared this deletion. The early diagnosis of familial X d eletions causing premature ovarian failure allowed for the prediction of impending menopause and the implementation of manoeuvres to advance conception. Although cytogenetic aberrations are rare in secondary am enorrhoea, the ability to predict premature ovarian failure can be vit al.