Cytogenic investigation of 103 patients with primary or secondary amenorrhea

Cytogenetic investigations were carried out on 103 women presenting with either primary (n = 88) or secondary (n = 15) amenorrhea. A sex chromosome anomaly was found in 26% and 33% of these patients, respectively. Other studies on women with primary amenorrhea have found a similar or even higher percentage of patients with an abnormal karyotype. It is therefore suggested that all women with absence of menstruation after the age of 16 years should be investigated cytogenetically. The surprisingly high percentage of pathological karyotypes among the secondary amenorrhea group does indicate that sex chromosome anomalies cannot be ruled out in women who have had apparently normal ovarian function for at least some time, and therefore more patients from this group should be selected for chromosome analysis.