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Description

Congenital absence of the vas deferens (CAVD) is a well-established genitourinary manifestation that may occur alone or in association with cystic fibrosis (CF). As nearly all males with CF are assumed to have CAVD, in isolation, the condition is a spectrum of genitourinary malformations most commonly identified during infertility evaluations in early-to-mid adulthood. In the United States, the universal addition of CF to newborn screening programs has permitted pre-symptomatic diagnosis for the vast majority of patients. Here, we present a case for which this was not true. Instead, surgical identification of CAVD prompted work up for CF that facilitated genetically tailored treatment for a young patient with CF.

Our male patient was born in Kazakhstan to Russian parents and immigrated to the United States at 20 months of age. He was followed by a pediatric general surgeon for a communicating right hydrocele and underwent a laparoscopic right inguinal hernia repair at 32 months of age. Intraoperatively, bilateral absent or severely atretic vas deferens and a moderately atretic right testicle were identified, raising concern for CF. On postoperative day one, he returned with persistent vomiting and an abdominal x-ray revealed fecalization of the ileum consistent with distal intestinal obstruction syndrome (DIOS). He was admitted and treated with resolution of symptoms by the following day. Given the combination of genitourinary anomalies and gastrointestinal obstruction, pediatric pulmonology was consulted for cystic fibrosis evaluation.

Since 2010, the majority, but not all, U.S. CF diagnoses are precipitated by positive newborn screens. This case highlights a clinical manifestation of CF (CAVD), identified during hernia repair, hastening evaluation for the disease. Diagnosis enabled prompt initiation of tailored CF therapies, highlighting the importance of recognizing clinical CF manifestations in children. While success of screening and treatment in the developed world has allowed children with CF to reach adulthood, this same model of care has not been equitably applied across the developing world.

Publication Date

5-8-2026

Disciplines

Surgery

Comments

2026 Research Day Corewell Health West, Grand Rapids, MI, May 8, 2026. Abstract 2055

Complete Atresia of the Vas Deferens: Routine Laparoscopic Hernia Repair as Catalyst in Diagnosis of Cystic Fibrosis

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