Journal of assisted reproduction and genetics · 2026
X-linked congenital bilateral absence of the vas deferens: a truncating pathogenic variant in ADGRG2: case report, reproductive outcome, and literature review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
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Sindvani Rhea, Milunsky Jeff, Oates Robert
Аннотация
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.
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.