AGENESIS OF DUCTUS DEFERENS. CASE REPORT AND BRIEF LITERATURE REVIEW

Abstract

Introduction: Agenesis of the ductus deferens is a rare congenital anomaly in the male population that can be a cause of male infertility. It can be classified as unilateral or bilateral agenesis. Agenesis of the ductus deferens is most commonly detected during the evaluation of infertility or as an incidental finding during surgical procedures in the urogenital region, such as orchidopexy or vasectomy. In the pediatric population, agenesis of the ductus deferens is most frequently discovered during surgical interventions for inguinal hernia, hydrocele, or undescended testis. Agenesis of the ductus deferens is often associated with other congenital anomalies, with ipsilateral renal agenesis being the most significant. Previous studies have linked agenesis of the ductus deferens to mutations in the cystic fibrosis transmembrane regulator (CFTR) gene.

Case outline: A 5.5-year-old boy was hospitalized for planned surgery of a large right-sided hydrocele. Intraoperatively, a massive hydrocele was confirmed, and radical fenestration was performed. During exploration of the spermatic cord and testicle, agenesis of the ductus deferens, right epididymis agenesis, and right testicular hypoplasia were verified. A testicular biopsy was done, and the sample showed maturation stage appropriate for the child's age. On physical examination, both testes were described as approximately equal in size, of usual size for the child's age, normally positioned vertically in the respective hemiscrotum, and without painful tenderness on palpation. Given the intraoperative findings of agenesis of the ductus deferens, an ultrasound of the abdomen and testicles was performed, revealing agenesis of the ipsilateral (right) kidney and compensatory hypertrophy of the left kidney. The results of genetic testing for mutations in the CFTR gene were negative.

Conclusion: Congenital absence of the ductus deferens is an extremely rare anomaly, most often detected in pediatric patients during scrotal or laparoscopic surgery. If vas deferens absence is found during surgery, simultaneous laparoscopic evaluation of the contralateral inguinal canal is recommended., Due to the high association of vas deferens agenesis with urogenital anomalies, all patients diagnosed with this condition should undergo targeted ultrasound of the abdomen and urogenital tract. Given the established association between vas deferens agenesis and CFTR gene mutations, genetic testing should be considered.