Investigations

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:

• (1) Maruthini D et al. Modern management of amenorrhoea. Trends Urol Gynaecol Sex Health 2008;13(2):24-28
• (2) NICE (May 2009) Coeliac disease Recognition and assessment of coeliac disease