What is your cut off of sperm density required in your practice to search for Y microdeletion?
do you add in your work up of any azoospermia of any kind the search for CFTR mutation or do you do it only in obstructive azoospermia with CBAVD or CUAVD ?
is there any indication for you to search for MTHFR mutation in male infertility ?
thanks and a big hug to Peter !!!!
Hi edouard,
since you should be french, could you speak french to optimize the question, and then the answers...
fred
Azoospermia factors (AZFa, AZFb, and AZFc) on Y-chromosome are important for spermatogenesis. microdeletions are checked when the patient is oligozoospermic/severe-oligozoospermic or Azoospermic.
AZF deletion type shows characteristics phenotype.
AZFa deletion is associated with complete absence of germ cells and presence of sertoli cells in the seminiferous tubules
AZFb deletion is associated with developmental arrest of germ cells usually at pachytene stage.
AZFc deletion is associated with seritoli cell-only syndrome (SCOS), developmental arrest of germ cells at spermatid stage and maturation arrest.
so in patients with sperm concentration less than 15million/ml micro-deletions are recommended.
No significant association has been found between Cystic Fibrosis and azoospermia, and also assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is possible that men with CBAVD can produce offspring. Nearly 95% of men with cystic fibrosis have CBAVD.
MTHFR is an important regulatory enzyme in folate metabolism, DNA synthesis and remethylation reactions.
in some studies associations between Azospermia or OligoAsthenoTeratazo OAT subgroup have been found however its role in azoospermia is still debatable and very few people recommend to do these test in patients.
Thank you ! The French guidelines recommend Y microdeletion testing if less than 2M/ml ! We do it if less than 5 M/ml !! About the cftr it is just a question of logic as nearly 1/30 are heterozygous and if by any bad luck the wife is also then it is important to know it before hand and especially when there is not CBAVD in that way we protect the doctor and the patient !!
about mthfr we are currently conducting a study in male looking at 677 and 1298 in case of high decondensation of sperm DNA or repeated miscarriage with no female causes or unexplaimed falure of icsi of course it is not azoospermia
big hug to my friend Peter S
regards
Thank you ! The French guidelines recommend Y microdeletion testing if less than 2M/ml ! We do it if less than 5 M/ml !! About the cftr it is just a question of logic as nearly 1/30 are heterozygous and if by any bad luck the wife is also then it is important to know it before hand and especially when there is not CBAVD in that way we protect the doctor and the patient !!
about mthfr we are currently conducting a study in male looking at 677 and 1298 in case of high decondensation of sperm DNA or repeated miscarriage with no female causes or unexplaimed falure of icsi of course it is not azoospermia
big hug to my friend Peter S
regards
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