Possible Genetic Links in Development of Syringocoele

1. No. 083 Possible Genetic Links in Development of Syringocoele Handoo Rhee, Urology Registrar, Mater Children’s Hospital, South Brisbane QLD 4101 David Winkle, Consultant Urologist, Mater Children’s and Adults Hospital, South Brisbane QLD 4101 Introduction Syringocoele of Cowper’s gland is a rare congenital abnormality that can present as an obstructive or an irritative condition in paediatric population. We describe two sets of brothers with syringocoele. One pair of brothers also happen to have cystinuria, and we describe another patient with cystinuria and syringocoele at the same time. Results Syringocoele was first recognized by Fenwick in 1896, then classified by Maizel in 1983. Since then, approximately 150 cases have been described in the literature. Lebowitz (1978) thought that the condition was initially caused by obstructed ductal orifices from urethritis, inflammatory disease or instrumentation. As the condition was increasingly being identified in younger patients, the hypothesis of its aetiology turned to anomalous development of the Cowper’s ducts. Some of the reported conditions associated with syringocoele include urethral diverticulum, anterior and posterior urethral valves, ureterocoele, Cobb’s collar, and acontractile bladder. This is the first time sets of brothers with syringocoele are described, or in patients with cystinuria. There is significant amount of research regarding syringocoele in veterinary medical literature. Cystic bulbourethral glands are found in 83.8% of mice with specific stain of SJL/J and RBF/DnJ. Up to 26% of particular bulls and sheep breeds are found to have syringocoele. In fact, in Western Australia, subterranean clover are monitored as it reduces fertility in bulls by causing syringocoele by the means of blocked ducts from increased sediments in urine. Transforming growth factor (TGF) beta is an agent that appears to aid epithelial-mesenchymal interactions in many organs including prostate and Cowper’s glands. Dunker and Aumuller described development of syringocoele in rats with heterogeneous deletion of TGF beta subtype II gene. Under the microscope, hyperplasia of the gland and reduced apoptosis of the glandular cells can be observed. Homogenous TGF beta subtype II gene mutations do not appear to be compatible with life. Unfortunately, there have been no reports on relations between cystinuria and syringocoele. Aim The aim of this study was to highlight the prevalence of urological co-morbidities associated with syringocoele. We performed extensive literature search in an attempt to explain our findings. • Methods Brothers 1 (Subject 1 and 2) • The older brother presented with a 6 year history of post micturition dribbles at age of 12. At the time of cystourethroscopy, type III Cowper’s duct syringocoele was identified and deroofed (Figure 1). It appeared as a pearly cystic dilatation of bulbourethral gland duct causing physical obstruction on ventral aspect of bulbar urethra. • 8 years later, his younger brother aged 14 at the time was diagnosed with the same condition. Ascending urethrogram demonstrated a filling defect in the bulbar urethra (Figure 2). Brothers 2 (Subject 3 and 4) • This set of brothers were both diagnosed with type III syringocoele during cystoscopies to treat cystine renal calculi. Subject 5 • This gentleman is an 18 year old with cystinuria who required multiple cystoscopies. He was found to have syringocoele incidentally. Figure 1(Right). Type III syringocoele can be deroofed with Colling’s knife to achieve immediate improvement in symptoms Figure 2 (Left). Retrograde urethrogram can demonstrate filling defect in urethra to diagnose syringocoele. Conclusions Historically, there has been significant interest in understanding the aetiology of syringocoele. Due to the rarity of the reports, there have been little clues to direct its research. Some of veterinary reports confirm our suspicion that the development of syringocoele may be a sequale of complex metabolic/genetic condition that are usually subclinical. References 1. Cowper W: Two new glands near the prostate glands, with their excretory ducts, lately discover’d.  The Philosophical Transactions and Collections, London 3: 194, 1705. 2. Fenwick EH. Retention cysts of Cowper’s glands as a cause of chronic gleet, spasmodic stricture, organic stricture, extravasation of urine and of so-called “false passages” in the bulbous urethra.  Br Med J.  1896; 1:4. 3. Maizels M, Stephens FD, King LR, et al.  Cowper’s syringocoele: a classification of dilatations of Cowper’s gland duct based upon clinical characteristics of 8 boys. J Urol.  1983; 19: 129: 111-114. 4. Dunker N, Aumuller G. Transforming growth factor-beta 2 heterozygous mutant mice exhibit Cowper’s gland hyperplasia and cystic dilations of the gland ducts (Cowper’s syringocoeles). J Anat. 2003. 201: 173-183. Acknowledgements We would like to thank Helen, Dr David Winkle’s secretary for assisting us with information gathering. Poster presentation sponsor