Massive tubular ectasia of the rete testes in a patient with Marfan syndrome

Abstract

This case study explores massive tubular ectasia of the rete testes in a patient with Marfan syndrome. Marfan syndrome is a connective tissue disorder and has no known association with tubular ectasia in published research. Despite the unclear pathophysiology of tubular ectasia, potential causes include mechanical obstruction and congenital deformity. The patient, a male in his 40s, presented with bilateral testicular pain and swelling up to a volume of 200 cc over two years. Tubular ectasia was diagnosed on ultrasound and MRI, no obstructive aetiology was identified. Initial conservative management was chosen, but further enlargement led to reconsideration of treatment options.

Highlights

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Rare case of tubular ectasia of the rete testes up to 200 cc bilaterally.
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Marfan syndrome may have contributed; however, no literature supports this.
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Benign condition which can be managed conservatively.
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Surgical intervention can be considered in severe cases.

1 Introduction

Tubular ectasia is a benign condition characterised by dilatation of the rete testis. This case study presents a patient with Marfan syndrome who developed tubular ectasia of the rete testes, highlighting the clinical presentation, investigations and management.

Marfan Syndrome is diagnosed clinically using the Ghent nosology. It is a connective tissue disorder affecting fibrillin, crucial for tissue elasticity. Mutations in fibrillin lead to Marfan syndrome, characterised by skeletal, cardiac, and ocular features.

Tubular ectasia of the rete testes involves cystic dilatation of seminiferous tubules in the testicle. The pathophysiology of the condition is unclear but may include mechanical obstruction, congenital deformity, or androgen deficiency. Observational studies suggest other potential causes including post-vasectomy status, inguinal hernia, or epididymal cysts. Ultrasound shows hypoechoic coarse cystic lesions, and MRI shows low T1 and high T2 signal intensity. These pathognomonic imaging findings are diagnostic, requiring no further investigations for this benign condition.

A literature search was conducted searching the key words Marfan- Marfan disease or syndrome, and testicular ectasia – cystic ectasia of the rete testis – rete tubular ectasia-cystic transformation of rete testis. Databases PubMed, Embase/Ovid and Google Scholar were searched for relevant English-language publications from any date and including any age group. No results were identified which included both key terms.

2 Case presentation

A male patient in his forties, presented to the emergency department in 2022 with scrotal pain and swelling on the left side, along with left iliac fossa pain.

The medical history includes Marfan’s syndrome with a previous mechanical aortic valve replacement, for which the patient is on warfarin, as well as trauma related right hip osteoarthritis. There is no previous history of cryptorchidism, vasectomy or inguino-scrotal surgery. The patient has previously conceived two children. The patient is full time employed, does not smoke and drinks a moderate amount of alcohol.

Upon presentation there was no reported dysuria, frequency, discharge, or haematuria. On initial examination, the scrotum was unremarkable apart from the swelling with no evidence of hernia. Although the urine analysis was not suggestive of infection a clinical diagnosis of epididymo-orchitis was made and the patient was treated with a course of antibiotics. The patient next presented a year later with increased swelling and discomfort and was referred to the Urology department for assessment.

Initial investigations included a negative urinalysis and sexually transmitted infection testing, normal blood tests, including kidney, liver, thyroid function, sex hormones, haematology and inflammatory markers. An initial ultrasound scrotum ( Fig. 1 a) revealed classical appearances of tubular ectasia measuring up to 5cm in both testes with the right testicular volume estimated at 26 cc and the left testicular volume estimated at 37 cc.