3.4 Outcomes of intracytoplasmic sperm injection (ICSI) in
patients carrying CFAP47 mutation
ICSI is a commonly used assisted reproductive technology (ART) to help
sterile patients (15). ICSI cycles were attempted for our patients, and
written informed consent was obtained for the procedure (Table 2). For
patient A, his wife was followed up for one ICSI cycle—with eight
oocytes retrieved after GnRH treatment. Five MII was collected, and one
8 II was transferred. Regrettably, his wife has not succeeded in
pregnancy. For patient B, his wife underwent a long
gonadotrophin-releasing hormone (GnRH) agonist protocol in the first
cycle. Six oocytes were retrieved, 4 mature oocytes (metaphase II, MII)
were successfully microinjected, and finally, 1 oocyte were normally
fertilized (1PN/injected oocytes = 25%). Following extended culture, we
obtained one available D3 embryo that failed to develop after being
transferred. After this progress, this couple continues the second cycle
and chooses the antagonist protocol. We retrieved three metaphase II
oocytes and injected them; however, they failed to develop after
reaching the available D3 stage. However, a previous study reported
satisfactory ICSI outcomes of a loss-of-function mutation inCFAP47 in humans and male mice (12). We speculated that
additional female risk factors for infertility should not be excluded,
and more cases need to be investigated to clarify the role of this
mutation in ICSI outcomes.