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ObjectiveSurvival rates for congenital diaphragmatic hernia (CDH) are increasing. The long-term outcomes of CDH survivors were compared with a healthy control group to assess the morbidity for guidance of antenatal counselling and long-term follow-up programmes.Participants and designParticipants born with CDH in Western Australia 1993–2008 were eligible with matched controls from the general population. Participants had comprehensive lung function tests, echocardiogram, low-dose chest CT scan and completed a Strengths and Difficulties Questionnaire (SDQ) and quality of life (QOL) questionnaire.Results34 matched case–control pairs were recruited. Demographic data between groups were similar. Cases were smaller at follow-up (weight Z-score of −0.2vs0.3; p=0.03; height Z-score of −0.3vs0.6; p=0.01). Cases had lower mean Z-scores for forced expiratory volume in 1 s (FEV1) (−1.49 vs −0.01; p=0.004), FEV1/forced vital capacity (−1.92 vs −1.2; p=0.009) and forced expiratory flow at 25-75% (FEF25-75) (−1.18vs0.23; p=0.007). Cases had significantly worse respiratory mechanics using forced oscillation technique. Subpleural triangles architectural distortion, linear opacities and scoliosis on chest CT were significantly higher in cases. Prosthetic patch requirement was associated with worse lung mechanics and peak cough flow. Cases had significantly higher rates of gastro-oesophageal reflux disease (GORD) and GORD medication usage. Developmental delay was significantly higher in cases. More cases had a total difficulties score in the high to very high range (25% vs 0%, p=0.03) on the SDQ and reported lower objective QOL scores (70.2 vs 79.8, p=0.02).ConclusionSurvivors of CDH may have significant adverse long-term medical and psychosocial issues that would be better recognised and managed in a multidisciplinary clinic.

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Since the human appendix testis is a Mullerian duct derivative it has been theorised that rising oestrogen levels in puberty result in enlargement of this organ and consequent predisposition to torsion. This study sought to establish the presence or absence of both androgen and oestrogen receptors in the human appendix testis. Bilateral appendix testis specimens surgically excised from ten patients undergoing scrotal exploration for acute scrotum were stained immunohistochemically for androgen and oestrogen receptors. These were examined by light microscopy. The human appendix testis was found to express both oestrogen and androgen receptors. Marked regional variation of androgen and oestrogen receptor positivity was demonstrated. The surface epithelium and some stromal cells were androgen receptor positive, whereas oestrogen receptors were confined to ductular invaginations, gland-like structures and some stromal cells. Rising levels of androgens and oestrogens in pubertal boys may account for enlargement and the predisposition of the human appendix testis for torsion since this structure contains receptors for both.

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Our data suggest a higher rate of secondary procedures if there is retained ureterocele. Data also suggest that complete reconstruction can be safely performed in a young infant without any adverse effect on continence.