X-linked congenital bilateral absence of the vas deferens: a truncating pathogenic variant in ADGRG2: case report, reproductive outcome, and literature review.

PURPOSE: To describe a case of CBAVD due to a pathogenic variant in ADGRG2, detail the reproductive outcomes of the couple, and provide an up-to-date review of ADGRG2 variant pathophysiology as well as speculate on the mechanism by which defects in ADGRG2 function result in vasal agenesis.

METHODS

Review of the first reported case in the USA and expound on ADGRG2 dysfunction vis-à-vis male reproductive ductal anatomy.

RESULTS

A pathogenic variant in ADGRG2 was the genetic etiology of CBAVD. The couple underwent sperm harvesting coupled with ICSI and delivered two daughters.

CONCLUSION

Pathogenic variants in ADGRG2 are important to look for when CFTR analysis is negative and renal ultrasonography is normal.