A case of primary amenorrhoea.

OBJECTIVE

To report a case of primary amenorrhoea and to describe an approach to evaluation.

METHODS

Primary amenorrhoea can be due to diverse causes and needs detailed and astute evaluation. We report the case of a 17 years old individual born and brought up as a female, who was brought to us with primary amenorrhoea. Approach to such a patient with a review of available published literature is described.

RESULTS

After detailed history, biochemical testing, imaging and karyotyping, we found that this patient had a XY karyotype with normal uterus, fallopian tubes and vagina, but streak gonads.

CONCLUSION

Swyer syndrome (46,XY gonadal dysgenesis), a sex reversal disorder characterized by a phenotypic female with non-functional streak gonads, poorly developed secondary sexual characters, primary amenorrhoea and 46,XY karyotype was diagnosed. This patient was treated with gonadectomy and sex hormone replacement.