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Turner Syndrome and apparent absent uterus: a case report and review of the literature

  • Sarah V. Akierman , Christopher D. Skappak , Rose Girgis und Josephine Ho EMAIL logo
Veröffentlicht/Copyright: 27. Februar 2013

Abstract

We report on a patient who initially presented with delayed puberty and an absent uterus on imaging with ultrasound and MRI. She was subsequently diagnosed with Turner Syndrome. Turner Syndrome typically presents with early loss of ovarian function and should be considered when primary ovarian insufficiency is present with apparent absent uterus on imaging. Follow-up imaging of the apparent absent uterus post-estrogen replacement therapy is important to confirm a normal uterus. A diagnosis of an absent uterus can be psychologically traumatic for patients and families, and can have significant implications for future fertility options.


Corresponding author: Josephine Ho, Division of Endocrinology, Department of Pediatrics, Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, Alberta, T3B 6A8, Canada, Phone: +1-403-955-7819, Fax: +1-403-955-5001

The authors would like to gratefully acknowledge the patient and her family who have agreed to share this case for this report.

Conflict of interest statement

The authors have no conflicts of interest to declare related to this report.

References

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Received: 2012-12-17
Accepted: 2013-1-18
Published Online: 2013-02-27
Published in Print: 2013-05-01

©2013 by Walter de Gruyter Berlin Boston

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