title: Frequency of primary amenorrhea due to chromosomal aberration.
abstract: OBJECTIVE
  To find out the frequency of primary amenorrhea due to chromosomal aberration and the different options available for management.
  
  
  METHODS
  Non-interventional study.
  
  
  METHODS
  The study was conducted over a period of two years from April 1999 to March 2001 in Gynaecology and Obstetrics Department, Unit-I, Civil Hospital, Karachi.
  
  
  METHODS
  All patients with primary amenorrhea due to chromosomal aberrations were included in study. Patient's detailed history, general physical examination, presence or absence of secondary sexual characteristics, abdominal and pelvic examination finding were noted. Targeted investigations, including ultrasound, hormonal assay, buccal smear and karyotyping, results were recorded. The management options were individually tailored with focus on psychological management.
  
  
  RESULTS
  Eighteen patients out of 30,000 patients were diagnosed as having primary amenorrhea. Six had primary amenorrhea due to chromosomal aberrations with the frequency of 0.02%. The age at presentation was 20 years and above in 50%. The most common cause was Turner's syndrome seen in 4 out of 6. The presenting symptoms were delay in onset of menstruation in 05 patients and primary infertility in 01 patient.
  
  
  CONCLUSIONS
  Primary amenorrhea due to chromosomal aberration is an uncommon condition requiring an early and accurate diagnosis. Turner's syndrome is a relatively common cause of this condition. Management should be multidisciplinary and individualized according to the patient's age and symptom at presentation. Psychological management is very important and counselling throughout treatment is recommended.
authors.affiliation: Department of Obstetrics and Gynaecology, Civil Hospital, Clifton, Karachi.
authors.forename: Shazia
authors.initials: S
authors.lastname: Jabbar
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D002869:Chromosome Aberrations; D003376:Counseling; D005260:Female; D006801:Humans; D010154:Pakistan / Q000453:epidemiology; D014424:Turner Syndrome / Q000453:epidemiology