Segmental testicular ischaemia: presentation, management and follow-up.

Segmental infarction of the testis is a rare event. Less than 40 cases have been reported in the literature and its aetiology remains largely unknown. The diagnosis is challenging and its identification crucial as partial ischaemia is frequently confused with testicular tumours and unnecessarily treated with orchiectomy. The objectives of this study are to: (i) raise awareness of this rare condition, (ii) provide the distinctive clinical and radiological features enabling pre-operative diagnosis, (iii) promote appropriate screening of causative factors and (iv) propose an alternative management approach to avoid surgery and preserve fertility. We describe three cases of partial testicular ischaemia in men presenting with reduced sperm quality. The cases demonstrate the ultrasound and magnetic resonance imaging appearance of testicular ischaemia. The surveillance strategy adopted for these lesions indicates that over 2 years of follow-up, marginal changes in the lesions can occur. Histology revealed that infiltration by stromal cells, leucocytes and macrophages is responsible for the remodelling of these lesions. Screening of risk factors for thromboembolism revealed that all patients carried a methylenetetrahydrofolate reductase 677C-->T (MTHFR) mutation in a gene involved in folate metabolism, and either borderline or elevated homocysteine levels. Distinctive features permit the pre-operative diagnosis of segmental testicular ischaemia. There are sufficient data to assert that a surveillance strategy is safe and feasible. We speculate that the defects in folate metabolism may pre-dispose individuals to the development of testicular infarction and infertility.