creation date: 2026-01-19 17:41
tags: Workups


Amenorrhea

Background

Primary amenorrhea refers to the lifelong absence of menses.

Secondary amenorrhea refers to the cessation of:

  • Previously regular menses for 3 months
  • Previously irregular menses for 6 months

Pathophysiology

Differential Diagnosis

Outflow tract abnormalities:

  • Cervical stenosis
  • Intrauterine adhesions
  • Congenital abnormalities
    Primary ovarian insufficiency:
  • Autoimmune
  • Chemotherapy or radiation
  • Gonadal dysgenesis
    Hypothalamic or pituitary disorders:
  • Autoimmune disease
  • Brain radiation
  • Constitutional delay of puberty
  • Functional energy deficit or stress (eg. eating disorder)
  • Gonadotropin deficiency
  • Hyperprolactinemia
  • Infarction, infection, infiltrative disease
  • Medications or drugs (eg. cocaine)
  • Trauma or surgery
  • Tumour
    Other endocrine gland disorders:
  • Adrenal insufficiency
  • Androgen-secreting tumour
  • Cushings
  • Uncontrolled diabetes mellitus
  • Polycystic ovary syndrome
  • Thyroid disease
    Chronic disease:
  • Celiac disease
  • Inflammatory bowel disease
    Physiologic or induced:
  • Breastfeeding
  • Contraception
  • Exogenous androgens
  • Menopause
  • Pregnancy

Initial Evaluation

History

A detail history should include:

  • Menstrual pattern if any
  • Pregnancy and breastfeeding history
  • Eating and exercise habits
  • Psychosocial stressors
  • Changes in body weight, fractures, medications, chronic illness, and timing of breast and pubic hair development

Associated findings may include:

  • Galactorrhea, headaches, visual field defects (hypothalamic or pituitary disease)
  • Acne, hirsutism (hyperandrogenism)
  • Vasomotor symptoms such as hot flashes or night sweats (primary ovarian insufficiency)

Family history should include:

  • Age of menarche of relatives
  • Any chronic disease history

Physical Exam

Objective exam should include:

  • Review trends in height, weight, and BMI
  • Signs of low estrogen (atrophic vaginal mucosae, abnormal breast development)
  • Signs of outflow tract obstruction (shortened vagina)
  • Signs of hyperandrogenism (virilization)

Investigations

In all cases, testing should include:

  • Pregnancy test
  • FSH, LH (HPO dysfunction)
  • Prolactin
  • TSH (thyroid disease)
  • CBC and metabolic panel (anemia and chronic diseases)

Other tests may include:

  • AMH
  • Estrodiol
  • Free and total testosterone
  • Karyotyping

In some cases, imaging may be indicated:

  • MRI of adrenal glands
  • MRI of brain
  • Pelvic organ ultrasonography

References

Tools / Guidelines

Additional Reading