How is amenorrhea diagnosed?

Updated: Oct 14, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Diagnostic strategy

The differential diagnosis of amenorrhea is broad and can range from genetic abnormalities to endocrine disorders and psychological, environmental, and structural anomalies. To facilitate prompt and accurate diagnostic workup, obtaining a thorough history and performing a detailed physical examination is essential. [47]

In the differential diagnosis of primary or secondary amenorrhea, the most important step in diagnosis is to exclude pregnancy. Always consider pregnancy first. After pregnancy is excluded, an algorithmic approach is followed to narrow the diagnostic possibilities. Causes of primary and secondary amenorrhea overlap considerably; [48] therefore, ascertaining the patient's sexual development is the key to differentiating these conditions.

See the Algorithms for Evaluation of Amenorrhea below to determine the most logical course leading to a specific diagnosis.

Organize clinical evaluation on the basis of sexual development and basic developmental physiology. With such a vast differential diagnosis, one way to organize and memorize the causes of amenorrhea can be in its relationships with generalized pubertal delay, normal pubertal development, or abnormalities of the genital tract.

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