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For further information, see CMDT Part 26-34: Primary Amenorrhea

Key Features

  • Menarche ordinarily occurs between ages 11 and 15 years (average in United States, 12.7 years)

  • Primary amenorrhea is failure of any menses to appear

  • Evaluate at age 14 if no menarche or breast development or if height in lowest 3% for ethnicity, or at age 16 if menarche has still not occurred

  • Causes

    • Hypothalamic-pituitary (low-normal FSH)

      • Idiopathic delayed puberty

      • Pituitary tumor

      • Hypothalamic amenorrhea (eg, stress, weight change, exercise)

      • Anorexia nervosa

      • Hypothyroidism

      • Cushing syndrome

      • GnRH or gonadotropin deficiency

    • Hyperandrogenism (low-normal FSH)

      • Adrenal tumor or adrenal hyperplasia

      • Polycystic ovary syndrome

      • Ovarian tumor

      • Exogenous androgenic steroids

    • Uterine causes (normal FSH)

      • Absence of uterus

      • Imperforate hymen

    • Ovarian causes (high FSH)

      • Turner syndrome

      • Autoimmune ovarian failure

    • Pseudohermaphroditism

      • Complete androgen insensitivity syndrome: individuals are born with completely normal external female genitalia, although some may have labial or inguinal swellings due to cryptorchid testes

      • Partial androgen insensitivity syndrome: individuals have variable degrees of ambiguous genitalia

    • Pregnancy (high hCG)

Clinical Findings

  • Nausea, breast engorgement suggest pregnancy

  • Headaches or visual field abnormalities suggest pituitary tumor

  • Obesity and short stature suggests Cushing syndrome

  • Hirsutism and virilization suggest excessive testosterone

  • Short stature suggests growth hormone or thyroid hormone deficiency

  • Short stature and gonadal dysgenesis indicate Turner syndrome

  • Tall stature suggests eunuchoidism or acromegaly

  • Anosmia suggests Kallmann syndrome

  • Perform pelvic examination to assess for hymen patency and presence of a uterus


  • Serum FSH, LH, prolactin, testosterone, TSH, free T4, and pregnancy test

  • Serum electrolytes

  • Further hormone evaluation if patient is virilized or hypertensive

  • MRI of hypothalamus and pituitary is used to evaluate teens with primary amenorrhea and low or normal FSH and LH—especially those with high PRL levels

  • Pelvic duplex/color sonography is very useful

  • Karyotyping


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