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Genital Malformations in Children With VACTERL – Has Time Come to Include “G” in the Acronym?

Hambraeus, Mette LU ; Börjesson, Anna LU ; Ekmark, Ann Nozohoor LU ; Tofft, Louise LU orcid ; Arnbjörnsson, Einar LU and Stenström, Pernilla LU orcid (2024) In Journal of Pediatric Surgery 59(10).
Abstract

Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. Method: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. Results: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children... (More)

Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. Method: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. Results: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05). Conclusion: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies. Level of Evidence: 4.

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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ARM, EA, Genital, Malformation, VACTERL-G, VASTERL
in
Journal of Pediatric Surgery
volume
59
issue
10
article number
161575
publisher
Elsevier
external identifiers
  • pmid:38849227
  • scopus:85195179493
ISSN
0022-3468
DOI
10.1016/j.jpedsurg.2024.05.005
language
English
LU publication?
yes
id
d77cfcf2-9414-4d8f-97fe-a89964b930af
date added to LUP
2024-09-16 09:49:19
date last changed
2024-09-16 09:49:30
@article{d77cfcf2-9414-4d8f-97fe-a89964b930af,
  abstract     = {{<p>Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. Method: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. Results: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p &lt; 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p &lt; 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p &lt; 0.05). Conclusion: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies. Level of Evidence: 4.</p>}},
  author       = {{Hambraeus, Mette and Börjesson, Anna and Ekmark, Ann Nozohoor and Tofft, Louise and Arnbjörnsson, Einar and Stenström, Pernilla}},
  issn         = {{0022-3468}},
  keywords     = {{ARM; EA; Genital; Malformation; VACTERL-G; VASTERL}},
  language     = {{eng}},
  number       = {{10}},
  publisher    = {{Elsevier}},
  series       = {{Journal of Pediatric Surgery}},
  title        = {{Genital Malformations in Children With VACTERL – Has Time Come to Include “G” in the Acronym?}},
  url          = {{http://dx.doi.org/10.1016/j.jpedsurg.2024.05.005}},
  doi          = {{10.1016/j.jpedsurg.2024.05.005}},
  volume       = {{59}},
  year         = {{2024}},
}