A case of primary amenorrhoea

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

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.

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.

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.