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Article

A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

BMC urology - 2 Feb 2022

Zou Ci, Yu Dexin, Geng Hao, Lan Xiaofeng, Sun Wei

Abstract excerpt

BACKGROUND: The incidence of 47, XYY syndrome in live-born male infants is 1/1000. Due to its variable clinical symptoms, the diagnosis is easy to miss. The incidence of congenital bilateral absence of the vas deferens (CBAVD) in infertile men is 1-2%. The main cause is the mutation of CFTR and ADGAG2 genes. CASE PRESENTATION: The patient was a 33-year-old man who visited a doctor 5 years ago due to infertility....

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Identifiers

PMID: 35109852
DOI: 10.1186/s12894-022-00965-1
PMCID: PMC8809031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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