Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study.

OBJECTIVE To estimate the incidence and type of chromosomal abnormalities in patients with primary and secondary amenorrhoea in Hong Kong. DESIGN Cytogenetic analysis and retrospective review. SETTING Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS Case records of 549 patients with either primary (n=237) or secondary (n=312) amenorrhoea referred to the Clinical Genetic Service from 1 January 1991 to 30 April 2002 were reviewed. All these patients with amenorrhoea would have karyotyping (G banding) performed. MAIN OUTCOME MEASURES Clinical characteristics of patients, and incidence and type of chromosomal abnormalities in the local population. RESULTS Sex chromosome anomaly was found in 24.5% and 9.9%, respectively, of women with primary and secondary amenorrhoea. In those with primary amenorrhoea, male karyotype was identified in 8.4% and X-chromosome abnormalities in 16.0%. CONCLUSION The incidence of chromosomal abnormalities in women with amenorrhoea is similar to that reported in the literature. Chromosomal abnormalities are identified often enough to warrant karyotyping of all women with amenorrhoea.