Fanconi anemia (FA) is a multisystem disease, characterized by the triad of 
physical abnormalities, bone marrow failure, and increased risk for malignancy. 
In the past few years, data has accumulated regarding fertility issues in FA 
patients, mostly due to gonadal dysfunction, which is prevalent in FA patients 
reaching puberty. It seems that attenuated FA phenotype lacking the classical 
manifestations often is presented with POI or azoospermia. Searching the 
literature, we summarized data regarding FA patients presenting as suffering 
from sub/infertility due to gonadal dysfunction, with or without other FA 
symptoms. We present a summary of the patients having biallelic pathogenic 
variants in FA genes FANCA, FANCM, BRCA2, and XRCC2 that presented with gonadal 
dysfunction with or without other phenotypic features of FA. Some were in 
mosaic, while some are considered hypomorphic, enabling residual protein 
function. There are also a few descriptions of POI associated with monoallelic 
pathogenic variants in FANCA, BRCA2, and FANCL. We conclude that the diagnosis 
of FA in gonadal dysfunction patients is of utmost importance due to its 
actionability. Follow-up strategies in FA patients are designed to discover 
early stages of leukemias and solid tumors and thus save lives. The feasibility 
of next-generation sequencing (NGS) can now ease this diagnostic procedure. An 
open question is the justification of performing NGS for all isolated 
azoospermia/POI patients.