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Investigations

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Endocrine assessment is indicated in patients with amenorrhoea, irregular periods or other evidence of androgen stimulation. The young female who is menstruating regularly and has been sucessfully pregnant is most likely to fall into the idiopathic group and requires little endocrine assessment.

History and physical examination may reveal an underlying disorder. Look for features of:

  • PCOS - menstrual irregularity, slow-onset hirsutism, obesity, infertility, the metabolic syndrome, acanthosis nigricans, a family history of type 2 diabetes (1,2)
  • androgenic secreting neoplasm -pelvic masses, rapid-onset hirsutism or virilization, over age 30 with onset of symptoms
  • Cushing’s syndrome - hypertension, buffalo hump, purple striae, truncal obesity (2)
  • drug induced – inquire about current medications e.g - anabolic or androgenic steroids (1)
  • non-classic (late onset) adrenal hyperplasia - severe hirsutism or virilization, a positive family history of CAH, short stature, signs of defeminization, high ris ethnic groups such as Ashkenazi jews and people with an Eastern European decent (2)

In women with slow progressive mild hirsutism, regular menses and the absence of signs of virilization, further investigations are not usually necessary (3). If investigations are needed serum levels of testosterone and dehydroepiandrosterone (DHEA) are usually sufficient (3).

Investigations:

  • single measure of early morning plasma total testosterone
    • should be done in patients with
      • moderate or severe hirsutism
      • hirsutism of any degree with a risk of neoplasm, PCOS or other endocrinopathies
    • a level greater than 5nm/L is suggestive of an androgen tumour (3)
    • if the total levels are marginally elevated or if normal in the presence of risk factors or if there is progression of hirsutism in spite of therapy, an early morning plasma free testosterone (ideally, on days 4 to 10 of the menstrual cycle in cycling females) measurement is indicated (1,4).
    • PCOS and other benign causes of androgenisation will have a testosterone above 2.5nm/L(5) - further investigation may require discussion with local endocrinologist or chemical pathologist - referral may be required
  • pelvic ultrasound - if there is a clinical suspicion of polycystic ovary syndrome (1) or androgen secreting tumor (2)
  • pregnancy test – in women with amenorrhoea (4)

Other endocrine tests that may be undertaken include plasma cortisol, free testosterone, sex hormone binding globulin, luteinising hormone, follicle stimulating hormone, prolactin, 17-hydroxyprogesterone, dihydroepiandosterone sulphate, thyroid function, and, if not undertaken previously, pelvic ultrasound

Reference:


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