title: A case of primary amenorrhoea.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Anulekha Mary
authors: AM
authors: John
authors: Vasanthi
authors: V
authors: Natarajan
authors: Vivi
authors: V
authors: Srivastava
authors: Alice
authors: A
authors: George
authors: Simon
authors: S
authors: Rajaratnam
mesh_terms: D000568:Amenorrhea / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D055815:Young Adult