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Probability diagnosis
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Constitutional delay of puberty
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Physiological e.g. excessive exercise, weight loss
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Polycystic ovarian syndrome
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Serious disorders not to be missed
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Cellular—lymphoma, leukaemia, myeloma
Pituitary tumours e.g. prolactinoma
Ovarian tumours/cancer
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Pitfalls (often missed)
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Imperforate hymen (haematocolpos)
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Masquerades checklist
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Drugs e.g. OCP, cytotoxics, metoclopramide, antipsychotics, valproate
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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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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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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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HCG/pregnancy test
FBE
U&E
FSH/LH
TFTs
prolactin
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testosterone
oestradiol
chromosomal analysis
ultrasound e.g. ovary
CT/MRI pituitary fossa
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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.