Fall 2012 - 08.pdf 714 | Male Infertility After Transpelvic Gunshot Wound Injury A Case of Clinical and Forensic Relevance Rafael Boscolo-Berto,1,2 Guido Viel,2 Daniela I. Raduazzo,3 Giovanni Cecchetto,2 Walter Artibani4 Corresponding Author: Rafael Boscolo-Berto, MD; FEBU Department of Oncological and Surgical Sciences, Urology Clinic, University of Padova Via Giustiniani 2 – 35128, Padova, Italy Tel: +39 339 113 1099 Fax: +39 049 821 2721 E-mail: boscolorafael@tiscali.it Received August 2010 Accepted March 2011 1Department of Oncological and Surgical Sciences, Urology Clinic, University of Padova, Italy 2Department of Environmental Medicine and Public Health, Section of Legal Medicine and Forensic Pathology, University of Padova, Italy 3Department of Clinical and Ex- perimental Medicine, University of Padova, Italy 4Urology Clinic, University of Verona, Italy Keywords: INTRODUCTION A - active and non-contracepting couple. Currently, about 15% of couples suffer from infertility. Around 50% of cases of infertility are male factors.(1) - clude chromosomal abnormalities, such as Klinefelter syndrome, autosomal karyotype ab- linked abnormalities, Kallmann syndrome, Reifenstein syndrome (androgen insensitivity), Y microdeletions, unilateral or bilateral absence or abnormality of the vas and renal anomalies, (1) condition subtended to infertility picture, with possible sequelae on inheritors whenever un- recognized in urological daily practice. CASE REPORT A 35-year-old Caucasian man presented to our facility for infertility. His past medical and surgical history revealed only a prior transpelvic gunshot wound injury due to a high-power - CASE REPORT Case Report 715Vol. 9 | No. 4 | Fall 2012 |U R O LO G Y J O U R N A L anterior abdominal wall on an umbilical-pubic and a right inguinocrural route (Figure 1). A bullet entrance wound was detectable on the lateral surface of the upper right thigh wound was recognizable a little bit higher on the lateral sur- appeared normal and vas deferens was bilaterally palpable. Semen analysis showed a normal pH (7.5) and volume of ejaculated sperm (3.0 mL). Scrotal ultrasonography re- vealed a normal appearance of the epididymis, vas deferens, and testicular parenchyma. Fine-needle biopsy recognized a bilateral normal spermatogenesis, leading to the diagnosis of obstructive azoospermia. Therefore, the patient resolute- ly was asked for a vasa deferens recanalization by bilateral vaso-vasostomy. To evaluate the possible outcome of such a surgical recon- struction, we performed a retrograde and micturitional ure- throcystography demonstrating a regular morphology of the urethral segments with an adequate vesical neck opening in the absence of deforming outcomes due to previous surgery (Figure 2). To establish the vas deferens length into the pel- vis, we performed a simultaneous transperineal ultrasound- guided vesiculography demonstrating the bilateral presence of normal seminal vesicles (Figure 3), and an antegrade scrotal vasography surprisingly revealing the vas deferens truncated at the upper level of the scrotum (Figure 4), with- out a pathogenetic correlation with patient’s past clinical history. On this basis, hormonal and genetic evaluation investi- gated the etiology of what seemed to be a congenital (and not post-traumatic) malformation, especially focusing on - eral absence of the vas deferens. While we found no ab- - lating hormone, prolactin, 17-ß-estradiol, and testosterone, screening for CF transmembrane conductance regulator (CFTR) gene mutations revealed a heterozygosis for delta F508 mutation on a background of a poly-T genotype of 7T/9T. Therefore, the diagnosis was congenital bilateral ab- sence of the vas deferens (CBAVD) associated with CFTR mutation and poly-T genotype of 7T/9T. As a result, there were no chances for a surgical reconstruc- tion of a spermatic route to regain a natural fertility. Never- theless, it would be possible to obtain pregnancy using the intracytoplasmic sperm injection; hence, we advised endo- crinologic and genetic counseling. DISCUSSION Male side routine investigations for infertility include se- men analysis, hormonal determinations, and eventually ad- Figure 1. Appearance of patient on physical examination. The en- trance and exit sites of bullet are shown (route of bullet signed with the broken line). Figure 2. Retrograde and micturitional urethrocystography dem- onstrating normal bladder and urethra. Infertility After Transpelvic Gunshot Wound Injury | Boscolo-Berto et al 716 | (1) Initially, an obstructive azoospermia diagnosis was made in our patient. The hypothesized bilateral lesion that occurred to the vas deferens was anatomically compatible with both the primary bilateral transection of the spermatic routes due to the gunshot wound and the outcome of an emergent sur- (2) In literature, iatrogenic injury to the vas deferens during the inguinal, pelvic, and scrotal surgery are described as acquired factors of male infertility, and are probably under- estimated.(3,4) Furthermore, a bilateral transection of the vas deferens in a patient with a cross stab injury to the root of scrotum has been previously reported.(5) - erens at the upper level of the scrotum was not compatible with our previous suppositions, raising up the suspicion of a CBAVD due to a genetic disorder, as typically occurs in CF. The clinical diagnosis of the absent vas deferens can be missed easily, and all men with azoospermia should un- those with a low semen volume and pH.(6) CFTR gene. It is the most common genetic disease of Cau- casians, as 4% of the general population is carrier of gene mutations. This gene is located on the short arm of chromo- some 7, and encodes for a membrane protein functioning as a chloride ion channel, basic for the formation correct development of the ejaculatory duct, seminal vesicle, vas deferens, and distal part of the epididymis. Congenital bilateral absence of the vas deferens is associ- are known and may be found in one or both copies of the CFTR gene, sometimes presenting only mild clinical stig- mata, especially in heterozygosis. A mild allele associated with CBAVD is the RNA splice variant named ‘the 5T al- lele’. This is characterized by a variable number of thymi- dine residues at the splice acceptor site of intron eight.(7) The 5T allele is associated with the lowest amounts of func- tional CFTR protein, and in patients affected by CBAVD is frequently associated with a severe mutation on the other allele, such as the DF508 mutation, with an incomplete pen- etrance.(7-9) - ple for CF mutations, determining both the genotypes and the consequent risk to transmit CF by assisted reproduction. Indeed, when the female partner is found to be a carrier of CFTR, the chance of having a baby with CF will be 25% if the man is heterozygous and 50% if the man is homozy- gous. Even in the case of negative female partner for known mutations, her chance of harboring an unknown mutation is about 0.4%. Figure 3. Transperineal ultrasound-guided vesiculography dem- onstrating the bilateral presence of the normal seminal vesicles, without visualization of the vas deferens (arrows). Figure 4. Antegrade scrotal vasography revealing the vas defer- ens truncated at the upper level of the scrotum (arrows). Case Report 717Vol. 9 | No. 4 | Fall 2012 |U R O LO G Y J O U R N A L CONFLICT OF INTEREST None declared. REFERENCES 1. Rowe PJ, Comhaire FH, Hargreave TB, Mahmoud AMA. WHO manual for the standardized investigation, diagnosis and management of the infertile male: Cambridge University Press; 2000. 2. Hudak SJ, Morey AF, Rozanski TA, Fox CW, Jr. Battlefield uro- genital injuries: changing patterns during the past century. Urology. 2005;65:1041-6. 3. Sheynkin YR, Hendin BN, Schlegel PN, Goldstein M. Micro- surgical repair of iatrogenic injury to the vas deferens. J Urol. 1998;159:139-41. 4. Shin D, Lipshultz LI, Goldstein M, et al. Herniorrhaphy with polypropylene mesh causing inguinal vasal obstruction: a preventable cause of obstructive azoospermia. Ann Surg. 2005;241:553-8. 5. Dorairajan LN, Kumar S, Madhekar N. 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Infertility After Transpelvic Gunshot Wound Injury | Boscolo-Berto et al