Hirschsprung disease (HSCR) constitutes a congenital absence of ganglion cells within the myenteric and submucosal plexus of a segment of the distal bowel. There is a well-recognised preponderance in males as well as a known association with certain syndromes, most commonly Trisomy 21, and causative genes, most commonly RET. While the majority (70%–80%) of patients will have disease limited to the rectum and sigmoid colon, a proportion of patients may have extended segment disease, with a loss of the male preponderance (approximately 3.5:1) in extended segment disease, total colonic aganglionosis (TCA) and small intestinal aganglionosis. HSCR usually presents in the neonatal period with signs of lower gastrointestinal obstruction (i.e., abdominal distension and failure to pass meconium), but may present beyond infancy with failure to thrive and a history of constipation, often accompanied by abdominal distension and vomiting.
Management for HSCR is surgical and involves an anastomosis of proximal, ganglionic bowel to the anorectum. There are a variety of techniques described for this, with comparable long-term functional results. A good outcome, in the form of a bowel function that is within the normal limit, can be expected in approximately half of all adult patients, and there is a strong correlation between poor function and a reduced quality of life. There is a paucity of data to describe the long-term outcome in other functional domains. Recently, a strong focus has been placed on the sexual function and fertility impact that colorectal surgery may have on both men and women, with impaired fertility noted in females after ileoanal pouch surgery following colectomy.
This study sought to obtain detailed functional data from adult women who have undergone surgery for HSCR as children, with the intention of identifying disease-related factors or other functional domains that might associate with sexual dysfunction. Furthermore, data on fertility outcomes was obtained in order to describe potential issues that might be faced by patients, in comparison to a population of women of similar age from the general population.
This was a multi-centre, observational study across four tertiary paediatric surgery centres in different European countries (United Kingdom, Finland, Norway, Sweden). Participants were invited to complete an online survey. Patients completed this with a study participation ID which allowed linkage of responses to medical and surgical records kept at the individual paediatric surgery centre. Data were shared in anonymised format between centres.
Sexual dysfunction as per the FSFI was more common in patients and associated with poor functional outcomes; sexual abstinence seemed to associate even more so with poor bowel outcomes. Subfertility was higher in patients compared to controls (1 year: 21/45 (47%) vs. 38/178 (21%), p=0.0008; 2 years: 12/45 (27%) vs. 17/178 (10%), p=0.004). There was an increased proportion of patients who had accessed fertility services (20/45 (44%) vs. 43/178 (24%); p=0.009), the proportion of successful pregnancies in patients attempting to conceive with IVF (11/17 (65%) vs. 27/43 (63%); p=1.0) was similar.
This study is the first to describe detailed sexual function and fertility outcomes across a cohort of women with Hirschsprung disease. Pelvic adhesive disease was more than thirty times more prevalent among patients, a condition that must be assumed to be related to the pull-through surgery they have undergone as children. There was also an increased incidence of endometriosis among patients, which could be related to mechanical obstruction of menses as a result of the aforementioned adhesions. The increased incidence of ovarian cysts may be more related to an increased proportion of women who may be undergoing imaging investigations for other reasons such as gastrointestinal symptoms.
Pelvic adhesions are known to be a common occurrence after colorectal surgery in adults and have well-recognised morbidity, including sexual dysfunction and infertility. This has led to a proposed option to defer definitive reconstructive ileal-pouch surgery after colectomy in women until after childbearing age. The potential relevance of pelvic adhesions was highlighted by the fact that, overall, HSCR patients appeared to have poorer sexual function (manifested in lower FSFI scores with a lower Pain subscore) and that their fertility is significantly impacted. This has also been recognised as a prevalent complication of pelvic colorectal surgery in women. The adverse fertility outcomes among female HSCR patients are a novel finding, previously suggested by a small single-centre cohort from within this research group.
On a population level, women with HSCR have also been shown to have fewer children and be older at the time of having their first child. Other unrecognised factors that may affect fertility in these women could also be considered; for instance, it is unknown whether RET or other mutations causing HSCR might affect fertility independently of surgery or its sequelae.
These data provide a first look at patient-level data related to sexual function and fertility in women after surgery for HSCR. Factors associated with poor outcome are explored, and importantly there does not appear to be an identifiable risk factor for the impaired fertility which is commonly identified in this patient group. The responsibility for imparting this advice should remain with the paediatric treatment team and the conversation should begin during the process of transitioning care to adult services. Authors feel the information here should empower patients with knowledge relevant to their family planning and future fertility journey. They believe that supportive advice regarding family planning should be offered to all adolescent female patients with Hirschsprung, with advice to seek help early if they encounter difficulties conceiving, and hope that these data are able to raise awareness among obstetricians and gynaecologists who may encounter women affected by this condition.
Source: Joseph R. Davidson, Annika Mutanen, Anna Löf Granström; BJOG: An International Journal of Obstetrics & Gynaecology, 2025; 0:1–8 https://doi.org/10.1111/1471-0528.18294
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