Underdiagnosis of Mild Congenital Anorectal Malformations

Jara E Jonker; Monika Trzpis; Paul M A Broens

doi:10.1016/j.jpeds.2017.03.054

Underdiagnosis of Mild Congenital Anorectal Malformations

J Pediatr. 2017 Jul:186:101-104.e1. doi: 10.1016/j.jpeds.2017.03.054. Epub 2017 Apr 27.

Authors

Jara E Jonker¹, Monika Trzpis², Paul M A Broens³

Affiliations

¹ Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: j.e.jonker@umcg.nl.
² Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
³ Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

PMID: 28457523
DOI: 10.1016/j.jpeds.2017.03.054

Abstract

Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex.

Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal and rectovestibular fistulas were classified as mild CARMs, all others as severe. If a patient was diagnosed with CARM within 48 hours after birth, this was considered an early diagnosis, all others as late.

Results: Seventy-five (58%) girls and 54 (42%) boys were diagnosed with different forms of CARM. More patients had mild rather than severe forms of CARM (67% and 33%, respectively, P <.001). We found that 89% of girls had a mild form of CARM, whereas 65% of boys had severe forms (P <.001). All severe forms were diagnosed early, whereas 54% mild forms were diagnosed early and 46% were diagnosed late.

Conclusions: Girls more often have mild forms of CARM, whereas boys more often have severe forms. Overall, the distribution across the sexes is equal. Because chronic constipation can be the only symptom of mild CARMs, it often requires more time to diagnose than severe forms. Many women are, therefore, diagnosed with CARMs at an older age, or they may go undiagnosed altogether. Subsequently, these women have a greater risk of full rupture during vaginal delivery.

Keywords: anal atresia; anorectal malformation; sex distribution.

MeSH terms

Age Factors
Anorectal Malformations / diagnosis*
Anorectal Malformations / epidemiology*
Anorectal Malformations / pathology
Female
Humans
Infant
Infant, Newborn
Male
Netherlands
Retrospective Studies
Severity of Illness Index
Sex Distribution
Sex Factors