Table 1.

Differential Diagnosis of Amenorrhea

Primary AmenorrheaSecondary Amenorrhea
Central (hypothalamus/pituitary; hypogonadotropic hypogonadism with low FSH)Constitutional delayaChronic illnessaFunctional hypothalamic amenorrheaaKallmann syndromeLaurence-Moon-Biedl andPrader-Willi syndromesTumors (craniopharyngioma and prolactinoma)Infiltration (hemochromatosis)InfarctionIatrogenic (radiation, surgery)Congenital hypopituitarismFunctional hypothalamica amenorrheaChronic illnessTumors (prolactinoma)
Ovarian (hypergonadotropic hypogonadism with high FSH)Turner syndromeaGonadal dysgenesisPrimary ovarian insufficiencyOophoritisGalactosemiaTumorRadiation, chemotherapyPrimary ovarian insufficiencyOophoritisRadiation, chemotherapy
Genital outflow tractImperforate hymenaMRKHaTransverse vaginal septumVaginal agenesisAndrogen insensitivityIntersex disordersUterine synechiae (Asherman syndrome)
OtherPregnancyPCOS (uncommon)Thyroid diseaseCushing syndromeAddison diseasePregnancyaPCOSaContraceptive useHyperprolactinemia due to medication or illicit drug useThyroid diseaseLate-onset congenital adrenal hyperplasiaCushing syndromeAddison disease
  • a Most common diagnosis in each category; the other diagnoses are not listed in order of prevalence.