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Purpose <p>There are limited data to show how sex impacts the early clinical course of patients with Hirschsprung disease (HSCR). This study aimed to explore potential sex related disparities in the preoperative, surgical, and early postoperative course of HSCR patients.</p> Methods <p>This retrospective study analyzed data of HSCR patients who underwent pull-through surgery at pediatric surgery centers in Sweden from July 1st, 2013, to June 30th, 2023. Male and female patients were compared regarding diagnostics, surgical treatment, unplanned procedures under general anesthesia or readmissions within 90&#xa0;days after pull-through, and complications (Clavien-Madadi grade ≥ 3) up to 30&#xa0;days after pull-through.</p> Results <p>A total of 197 patients were included from four treating centers (158 males, 39 females). Females had a higher prevalence of familial disease (28.2% vs. 8.2%; <i>p</i> &lt; 0.01) and <i>RET</i> gene mutations (15.4% vs. 2.5%; <i>p</i> = 0.02). No differences were observed in age at biopsy, need for re-biopsy, preoperative stoma rates, or age at diagnosis. Time from diagnosis to pull-through was longer in females (median 48.5 vs. 28&#xa0;days; <i>p</i> = 0.02), but age at pull-through did not differ. No significant differences were found in postoperative hospital stay, severe complications within 30&#xa0;days, nor unplanned procedures, HAEC, or readmissions within 90&#xa0;days.</p> Conclusion <p>The early clinical course of HSCR patients does not appear to be sex dependent. Although females had a longer interval from diagnosis to pull-through, their age at pull-through was comparable to males. As expected, a higher proportion of females reported familial disease and had a verified <i>RET</i>-mutation.</p> Level of evidence <p>Level III.</p>

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Exploring potential sex differences in Hirschsprung disease: a national cohort study of diagnostic patterns and early postoperative outcome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月3日

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  • Linnea Söderström,
  • Christina Graneli,
  • Kristine Hagelsteen,
  • Anna Gunnarsdottir,
  • Jenny Oddsberg,
  • Pär-Johan Svensson,
  • Helena Borg,
  • Matilda Bräutigam,
  • Elisabet Gustafson,
  • Anna Löf Granström,
  • Pernilla Stenström,
  • Tomas Wester

摘要

Purpose

There are limited data to show how sex impacts the early clinical course of patients with Hirschsprung disease (HSCR). This study aimed to explore potential sex related disparities in the preoperative, surgical, and early postoperative course of HSCR patients.

Methods

This retrospective study analyzed data of HSCR patients who underwent pull-through surgery at pediatric surgery centers in Sweden from July 1st, 2013, to June 30th, 2023. Male and female patients were compared regarding diagnostics, surgical treatment, unplanned procedures under general anesthesia or readmissions within 90 days after pull-through, and complications (Clavien-Madadi grade ≥ 3) up to 30 days after pull-through.

Results

A total of 197 patients were included from four treating centers (158 males, 39 females). Females had a higher prevalence of familial disease (28.2% vs. 8.2%; p < 0.01) and RET gene mutations (15.4% vs. 2.5%; p = 0.02). No differences were observed in age at biopsy, need for re-biopsy, preoperative stoma rates, or age at diagnosis. Time from diagnosis to pull-through was longer in females (median 48.5 vs. 28 days; p = 0.02), but age at pull-through did not differ. No significant differences were found in postoperative hospital stay, severe complications within 30 days, nor unplanned procedures, HAEC, or readmissions within 90 days.

Conclusion

The early clinical course of HSCR patients does not appear to be sex dependent. Although females had a longer interval from diagnosis to pull-through, their age at pull-through was comparable to males. As expected, a higher proportion of females reported familial disease and had a verified RET-mutation.

Level of evidence

Level III.