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Probability diagnosis



Constitutional delay of puberty

Breast feeding

Physiological e.g. excessive exercise, weight loss

Drugs esp. iatrogenic

Polycystic ovarian syndrome

Serious disorders not to be missed


  • Severe systemic illness

  • Pelvic inflammatory disease


  • Cellular—lymphoma, leukaemia, myeloma

  • Pituitary tumours e.g. prolactinoma

  • Ovarian tumours/cancer


  • Brain injury

Pitfalls (often missed)

Imperforate hymen (haematocolpos)

Anorexia nervosa

Primary ovarian failure



  • Congenital adrenal hyperplasia

  • Genital malformations

  • Gonadal dysgenesis

  • Asherman’s syndrome

  • Turner’s syndrome

Masquerades checklist

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


Thyroid/other endocrine: adrenal, pituitary disorders

Is the patient trying to tell me something?

Consider eating disorders, pseudocyesis

Key history

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.

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.

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

Key examination

General features:

  • 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

Key investigations

First line:

  • HCG/pregnancy test

  • FBE

  • U&E

  • FSH/LH

  • TFTs

  • prolactin


  • testosterone

  • oestradiol

  • chromosomal analysis

  • ultrasound e.g. ovary

  • CT/MRI pituitary fossa

Diagnostic tips

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

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

Consider a serious intracranial disorder if headache and visual disturbance.

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