Medium- and Long-Term Urinary and Sexual Outcomes in Patients Who Underwent Surgery for Hirschsprung Disease in the Auvergne-Rhône-Alpes Region and at Marseille University Hospital Between 2000 and 2018

Hirschsprung disease is a rare congenital disorder affecting the gastrointestinal tract of newborns. It is caused by the absence of enteric ganglion cells in a segment of the large intestine, preventing normal bowel function and leading to intestinal obstruction. The only effective treatment is surgical, usually performed during the first months or years of life, and consists of resecting the affected bowel segment and reconnecting the healthy intestine.

Advances in surgical techniques have enabled most children with Hirschsprung disease to achieve normal growth and development. However, surgery is performed in an anatomical region containing nerves and structures that are essential for normal bladder and sexual function. Although previous studies have demonstrated that some patients continue to experience long-term bowel dysfunction after surgery, the potential long-term effects on urinary function and sexual health during childhood, adolescence, and adulthood remain insufficiently investigated.

The primary objective of this study is to determine the prevalence and characteristics of long-term urinary symptoms in patients who underwent surgery for Hirschsprung disease during early childhood. Secondary objectives are to assess sexual function, overall quality of life, and long-term bowel function. In addition, the investigators aim to compare these outcomes according to the surgical technique used, as several operative approaches are currently available and none has yet been shown to be superior in preventing long-term sequelae.

the investigators hypothesize that a clinically relevant proportion of patients-approximately 10%-experience persistent urinary symptoms years after surgery, despite these symptoms being infrequently assessed and rarely included in routine long-term follow-up.

This study is intended for individuals aged 7 to 25 years who underwent surgery for Hirschsprung disease between 2000 and 2018 at one of the five participating university hospitals: Grenoble, Lyon, Saint-Étienne, Clermont-Ferrand, and Marseille. Eligible participants will be contacted by telephone and invited to participate. Those who provide informed consent (and assent/parental consent when applicable) will receive a secure email link to complete online questionnaires assessing urinary symptoms, sexual function (when age-appropriate), quality of life, and bowel function. These validated questionnaires have been widely used in previous studies and require approximately 15-20 minutes to complete. No study visits, medical examinations, or additional follow-up are planned as part of this research; participation consists solely of completing the questionnaires.

The findings of this study will improve our understanding of the long-term urinary and sexual sequelae associated with Hirschsprung disease surgery. Ultimately, they may contribute to the development of more systematic long-term postoperative follow-up strategies, enabling earlier identification and improved management of urinary and sexual dysfunction in children as they progress through adolescence and into adulthood.