Partial cervical agenesis and complete vaginal atresia

Kimble, Rebecca, Molloy, Genevieve and Sutton, Bridget (2016) Partial cervical agenesis and complete vaginal atresia. Journal of Pediatric and Adolescent Gynecology, 29 3: e43-e47. doi:10.1016/j.jpag.2015.11.004

Author Kimble, Rebecca
Molloy, Genevieve
Sutton, Bridget
Title Partial cervical agenesis and complete vaginal atresia
Journal name Journal of Pediatric and Adolescent Gynecology   Check publisher's open access policy
ISSN 1873-4332
Publication date 2016-06
Year available 2016
Sub-type Article (original research)
DOI 10.1016/j.jpag.2015.11.004
Open Access Status Not Open Access
Volume 29
Issue 3
Start page e43
End page e47
Total pages 5
Place of publication Philadelphia, PA, United States
Publisher Elsevier
Collection year 2017
Language eng
Formatted abstract
Background: The objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center.

Cases: Two patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized.

Summary and Conclusion: Partial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal.
Keyword Cervical agenesis
Müllerian abnormality
Vaginal atresia
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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