Evaluation of primary amenorrhea

Last reviewed: 3 Feb 2025
Last updated: 26 Feb 2025

Summary

Differentials

Common

  • Primary hypothalamic amenorrhea
  • Emotional/physical stress, eating disorder, or relative energy deficiency in sport (RED-S)
  • Constitutional delay
  • Malnutrition or chronic disease state
  • Kallman syndrome (hypogonadotropic hypogonadism)
  • Hyperprolactinemia
  • Polycystic ovary syndrome (PCOS)
  • Non-classic congenital adrenal hyperplasia
  • Turner syndrome or mixed gonadal dysgenesis
  • Mayer-Rokitansky-Kuster-Hauser syndrome (Mullerian agenesis)
  • Outflow tract obstruction, including imperforate hymen or transverse vaginal septum
Full details

Uncommon

  • Craniopharyngioma
  • Gonadotropin-releasing hormone (GnRH) receptor mutations
  • Post-encephalitis
  • Androgen-producing ovarian tumor
  • Androgen-producing adrenal tumor
  • XY gonadal dysgenesis (Swyer syndrome)
  • 5-alpha-reductase deficiency
  • 17-alpha-hydroxylase (CYP17) deficiency
  • Androgen insensitivity syndrome
Full details

Contributors

Authors

Meir Jonathon Solnik, MD
Meir Jonathon Solnik

Professor of Obstetrics and Gynecology, Medical Imaging (by cross-appointment)

Temerty Faculty of Medicine

University of Toronto

Head of Gynecology and Minimally Invasive Surgery

Mount Sinai Hospital & Women’s College Hospital

Toronto

Canada

Disclosures

MJS serves as an advisory board member for Pfizer, Integra Health, and Abbvie; and serves as a medical advisor for Felix Health Inc.

Acknowledgements

Dr Meir Jonathon Solnik would like to gratefully acknowledge Dr Jessica Papillon-Smith, a previous contributor to this topic.

Disclosures

JP-S declared that she had no competing interests.

Peer reviewers

Anne K Smith, MD, MS, FACOG

Assistant Professor

Yale University

New Haven

CT

Disclosures

AKS declares that she has no competing interests.

Rachana Shah, MD

Associate Professor of Pediatrics

Children’s Hospital of Philadelphia

Philadelphia

PA

Disclosures

RS declares that she has no competing interests.

Mary Ann Lumsden, BSc Hons, MBBS, MRCOG, MD, FRCOG

Head of Section

Reproductive and Maternal Medicine

University of Glasgow Royal Infirmary

Glasgow

Scotland

Disclosures

MAL declares that she has no competing interests.

Use of this content is subject to our disclaimer