Assessment of primary amenorrhoea

Last reviewed: 7 Jun 2022
Last updated: 18 Mar 2022

Summary

Differentials

Common

  • Primary hypothalamic amenorrhoea
  • Emotional/physical stress, eating disorder or female athlete triad
  • Constitutional delay
  • Malnutrition or chronic disease state
  • Kallman syndrome (hypogonadotrophic hypogonadism)
  • Hyperprolactinaemia
  • 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
  • Gonadotrophin-releasing hormone (GnRH) receptor deficiency
  • Post-encephalitis
  • Androgen-producing ovarian tumour
  • Androgen-producing adrenal tumour
  • Bilateral agenesis testes (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

Associate Professor of Obstetrics and Gynecology

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 is a consultant for Medtronic, Olympus, Hologic, and Abbvie; and has stock in Field Trip Health Ltd and Felix Health, Canada.

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

Joseph S. Sanfilippo, MD, MBA

Professor

Department of Obstetrics, Gynecology, and Reproductive Sciences

Vice Chairman

Reproductive Sciences

Director

Division of Reproductive Endocrinology and Infertility

University of Pittsburgh

Pittsburgh

PA

Disclosures

JSS declares that he 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.

Robert Shaw, MD

Professor and Chair

Department of Neurology

Wake Forest University School of Medicine

Winston-Salem

NC

Disclosures

RS declares that he has no competing interests.

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