Fertility and Sexual Function in Males With Hirschsprung Disease: A Nordic Cross-sectional Study

Nordic men who had pull-through surgery for Hirschsprung disease reported 12.7% failure to conceive — below the WHO population estimate of 16.5%

Journal: Annals of Surgery | Published: 2024-12-23 | Type: Cross-sectional, Multicenter Study | PMID: 39714784 Authors: Söderström L et al., Karolinska Institutet and six other Nordic pediatric surgery centers Funding/COI: Birgitta and Carl-Axel Rydbeck's Research Grant; authors report no conflicts of interest

Summary

This is the largest study to date on sexual and reproductive outcomes in men who underwent pull-through surgery for Hirschsprung disease (HSCR) as children. Among 169 Nordic men (median age 32), fertility failure rates were lower than WHO population estimates, and sexual quality of life scores were comparable to published norms. The standout finding: poor bowel function — not the type of surgery or extent of aganglionosis — was associated with both ED and impaired fertility.

Claims

• Of 63 men who attempted to conceive, 8 (12.7%) failed after 1 year; 5 (7.9%) failed after 2 years — both below WHO estimates of 16.5–17.8% for high-income countries
• 26.5% of the cohort had any form of ED by IIEF-5 score; 2.7% had moderate-to-severe ED
• Poor bowel function (Rintala BFS <17) was significantly associated with ED (P = 0.0026) and impaired fertility (P = 0.0278)
• Surgical method (endorectal pull-through, Duhamel, etc.) and aganglionic segment length showed no significant association with fertility or sexual function outcomes
• Median sexual quality of life score (SQoL-M) was 95, slightly above the 88.2 reported in a comparable published dataset
• Cohort total fertility was 0.743 children per man — low, but the median age was 32, and average first-paternity age in the Nordics is 30.9–32.3
• 27.7% of participants had impaired bowel function (BFS <17)

Study Quality

Seven pediatric surgery centers across Sweden, Finland, Norway, and Denmark contributed to this cross-sectional study. Validated instruments were used throughout: IIEF-5 for erectile function, SQoL-M for sexual quality of life, Rintala BFS for bowel function, and SF-36 for general QoL. Disease-specific variables were collected retrospectively from medical records. The use of validated questionnaires and the multicenter Nordic design are genuine strengths.

The critical weakness is the absence of a concurrent control group. All comparisons against the "general population" are drawn from separate published studies with different samples, time periods, and methodologies. The authors acknowledge this in their limitations but still frame the abstract as showing "no higher prevalence" of ED — a claim their own discussion quietly undercuts. When they compare their 26.5% ED prevalence to Ponholzer et al.'s 25.5–28.9% in younger age groups and Mark et al.'s 24.2% overall, the paper notes "our study does suggest a higher prevalence of ED within our cohort." That tension between the abstract and the discussion deserves attention.

Red Flags

• 36.7% response rate: Only 169 of 461 eligible men responded. Participation bias cuts both ways — men with problems may be more motivated to participate, or stigma around sexual dysfunction may suppress response. The direction of bias is unknown, and it substantially limits generalizability.
• No control group: Normative comparisons are stitched together from multiple external datasets with different instruments, age structures, and populations. This is not the same as matched controls.
• Abstract-discussion inconsistency: The abstract states the cohort "did not report...a higher prevalence of erectile dysfunction" compared to norms; the discussion section explicitly states the data "does suggest a higher prevalence of ED." The more cautious interpretation belongs in the abstract.
• Young median age (32): Most of the cohort hasn't yet reached peak childbearing years, making fertility conclusions premature. The authors acknowledge this but it remains a real interpretive constraint.
• SF-36 data from only 39 participants: General quality of life scores are available for just 23% of the cohort — too thin to draw conclusions from.
• Cross-sectional design: Cannot establish whether bowel dysfunction causes ED or whether both share an underlying etiology from the original disease or surgical injury.

Strengths

• Largest HSCR male sexual outcomes cohort published to date
• Multicenter design across four countries with broadly consistent response rates by country
• Validated questionnaires (not ad hoc instruments) for all primary outcomes
• Exclusion of trisomy 21 reduces a major confound
• Independent finding about bowel function — rather than surgical technique — being the relevant predictor is clinically informative and warranted follow-up

Verdict

This paper fills a genuine gap — there was essentially no large-scale data on sexual outcomes in adult males with HSCR — and it does so with reasonable methodology for a rare-condition cross-sectional study. The main finding that bowel function, not surgical approach, predicts ED and fertility difficulty is the most actionable signal here, even if the study can't establish causality. That said, a 36.7% response rate and the lack of a matched control group mean the reassuring fertility headlines should be read cautiously. The abstract's framing understates the ED signal that the discussion itself acknowledges. Worth reading for the bowel-function association; not reliable enough to settle the question of whether HSCR surgery affects ED rates.