Primary amenorrhea

Etiology

Hypothalamic-pituitary causes (low-normal FSH)

  • Idiopathic delayed puberty
  • Pituitary tumor
  • Hypothalamic amenorrhea, eg, stress, weight change, exercise
  • Anorexia nervosa
  • Hypothyroidism
  • Cushing's syndrome
  • GnRH or gonadotropin deficiency, eg, Kallmann syndrome
  • Craniopharyngioma

Excess testosterone (low-normal FSH)

  • Adrenal tumor or adrenal hyperplasia
  • Polycystic ovary syndrome
  • Ovarian tumor
  • Androgenic steroids

Ovarian causes (high FSH)

  • Gonadal dysgenesis, eg, Turner syndrome
  • Autoimmune ovarian failure
  • Rare ovarian enzyme deficiencies

Pseudohermaphroditism (high LH)

  • Testosterone synthesis defect
  • Complete androgen resistance (testicular feminization)

Anatomic defect (normal FSH)

  • Vaginal agenesis, absent uterus, atrophic endometrium, imperforate hymen

Pregnancy (high hCG)

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