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.