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Investigations

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Congenital causes of amenorrhoea can be ignored in patients with secondary amenorrhoea but a patient with primary amenorrhoea may have any of the conditions associated with primary or secondary amenorrhoea. Pregnancy must always be excluded.

Basic investigations are:

  • history and physical examination
  • hormone measurements - PRL, FSH, LH, thyroid function, testosterone
  • pelvic ultrasound scan - indicates size of ovaries, presence of follicles and their size, may reveal polycystic ovaries, presence of uterus in cases of vaginal atresia

Other investigations are conducted as indicated:

  • chromosomal studies - if primary amenorrhoea without any obvious basis or if abnormal phenotype
  • progesterone challenge
  • radiologic studies - intravenous urogram if uterine or vaginal malformation to exclude associated renal abnormalities
  • CT or MRI - to visualise pituitary fossa for tumours
  • abdominal or pelvic CT/MRI - haematocolpos, haematometra, or other developmental anomalies (1)
  • laparoscopy and gonadal biopsy - indicated only if the nature of the gonads or the presence of primary oocytes is in dispute
  • hysteroscopy
  • consider serological testing for coeliac disease (2)

Reference:

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