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Probability diagnosis

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Pregnancy

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Perimenopause/menopause

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Constitutional delay of puberty

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Breast feeding

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Physiological e.g. excessive exercise, weight loss

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Drugs esp. iatrogenic

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Polycystic ovarian syndrome

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Serious disorders not to be missed

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Infection:

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  • Severe systemic illness

  • Pelvic inflammatory disease

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Cancer:

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  • Cellular—lymphoma, leukaemia, myeloma

  • Pituitary tumours e.g. prolactinoma

  • Ovarian tumours/cancer

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Other:

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  • Brain injury

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Pitfalls (often missed)

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Imperforate hymen (haematocolpos)

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Anorexia nervosa

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Primary ovarian failure

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Hyperprolactinaemia

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Rarities:

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  • Congenital adrenal hyperplasia

  • Genital malformations

  • Gonadal dysgenesis

  • Asherman’s syndrome

  • Turner’s syndrome

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Masquerades checklist

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Drugs e.g. OCP, cytotoxics, metoclopramide, antipsychotics, valproate

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Anaemia

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Thyroid/other endocrine: adrenal, pituitary disorders

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Is the patient trying to tell me something?

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Consider eating disorders, pseudocyesis

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Key history

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Take menstrual (if any) history i.e. primary or secondary amenorrhoea, including age of thelarche, detailed menstrual history and associations. Ask about strenuous exercise activities.

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Systems review to include endocrine/pituitary features, e.g. headache, galactorrhoea, visual defects, weight changes, fatigue, voice changes, cold/heat intolerance, libido and other. Past medical history including obstetric and gynaecological surgery.

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Drug history esp. OCP, LARCs, other hormones, opioids and those mentioned above under drugs as masquerades. Also document family, psychological and social history.

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Key examination

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General features:

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  • appearance of patient

  • vital signs

  • physical features incl. BMI, skin, body hair distribution, signs of virulisation (i.e. note any secondary sex characteristics)

  • brief neurological assessment incl. visual fields

  • breast examination

  • pelvic examination

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Key investigations

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First line:

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  • HCG/pregnancy test

  • FBE

  • U&E

  • FSH/LH

  • TFTs

  • prolactin

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Consider:

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  • testosterone

  • oestradiol

  • chromosomal analysis

  • ultrasound e.g. ovary

  • CT/MRI pituitary fossa

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Diagnostic tips

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Consider anorexia nervosa, heavy dieting, PCOS, delayed puberty, imperforate hymen, pregnancy and drugs (iatrogenic and social).

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Hypothalamic amenorrhoea is usually functional and caused by weight loss, psychological stress or excessive exercise.

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Consider a serious intracranial disorder if headache and visual disturbance.

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