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There have been a number of studies assessing relationship
between primary or secondary amenorrhoea and sex chromosomal abnomalities.
Doctors from Kwong Wah Hospital and Clinical Genetic Service of
Department of Health worked together to estimate the incidence and
type of chromosomal abnormalities in patients with primary and secondary
amenorrhoea in Hong Kong. Study findings are published in the August
2005 issue of Hong Kong Medical Journal.
According to the case records of 549 patients with primary or secondary
amenorrhoea referred to the Clinical Genetic Service between January
1991 and April 2002, it was found that 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%.
An abnormal karyotype was present in 9.9% patients with secondary
amenorrhoea.
The doctors pointed out that incidence of chromosomal abnormalities
in women with amenorrhoea is similar to that reported in the literature.
Because there is significant number of patients having sex chromosomal
abnormalities, early cytogenetic investigation is important to guide
further management. If cytogenetic abnormalities are detected, a
full explanation should be given to the patient by a geneticist
or gynaecologist with experience in genetics.
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