ABSTRACT
Objective: To investigate the effect of embryo quality at different developmental stages on the secondary sex ratio (SSR) of single live birth neonates. Methods: Data for patients with singleton live births after embryo transferred between January 2016 and January 2022 were retrospectively analyzed. The effect of embryo quality at different development stages on the SSR of 11 713 singleton live births were investigated. The association of SSR and embryo quality at different development stages was examined in univariate analysis and in a multivariate logistic regression model, after adjustment for confounders, using two models (Ⅰ and Ⅱ). Results: The age of both male and female, body mass index of both male and female, basal follicle stimulating hormone and estradiol, smoking of male, methods of insemination, methods of sperm extraction, types of transfer cycle and the number of embryo transferred were not related with SSR (all P>0.05). After adjustment for confounders, the probability of a male live birth was higher after transfer of good-quality blastula than after transfer of poorer-quality blastula (model Ⅰ: aOR=0.73, 95%CI: 0.65-0.82, P<0.001; model Ⅱ: aOR=0.73, 95%CI: 0.65-0.82, P<0.001). The quality of cleavage stage embryo was not associated with SSR (model Ⅰ: aOR=0.99, 95%CI: 0.87-1.13, P=0.937; model Ⅱ: aOR=0.99, 95%CI: 0.87-1.13, P=0.899). Conclusions: The SSR of singleton live births after embryo transfer is not correlated with the quality of cleavage stage embryo, but is correlated with the quality of blastula. Good-quality blastula transfer is more likely to result in a male live birth.
Subject(s)
Infant, Newborn , Pregnancy , Humans , Male , Female , Live Birth , Retrospective Studies , Sex Ratio , Semen , BlastocystABSTRACT
To explore the genetic causes of 3 male infertility patients with acephalospermia and the outcome of assisted reproductive technology. Clinical diagnosis, sperm morphology examination, sperm transmission electron microscopy examination were performed on 3 patients, and the whole exome sequencing technology was used for screening, Sanger sequencing verification, mutation pathogenicity analysis, and protein sequence homology comparison. Assisted reproductive technology was implemented to assist pregnancy treatment. The 3 patients were all sporadic infertile men, aged 25, 42 and 26 years, and there was no obvious abnormality in the general physical examination. Male external genitalia developed normally, bilateral testicles were normal in volume, and bilateral epididymis and spermatic vein were palpated without nodules, cysts, and tenderness. Repeated semen analysis showed that a large number of immature sperm could be seen, and they had the ability to move. The SUN5 gene of the 3 male infertile patients was a case of homozygous missense mutation c.7C>T (p.Arg3Trp), a case of compound heterozygous missense mutation c.1067G>A (p.Arg356His) and nonsense mutation c.216G>A (p.Trp72*) and a case of homozygous missense mutation c.1043A>T (p.Asn348Ile), of which c.7C>T (p.Arg3Trp) and c.1067G>A (p.Arg356His) were new variants that had not been reported. SIFT, Mutation Taster and PolyPhen-2 software function prediction results were all harmful, the nonsense mutation c.216G>A (p.Trp72*) led to the premature termination of peptide chain synthesis which might have a greater impact on protein function. The homology regions in the protein sequence homology alignment were all highly conserved.The 3 male patients and their spouses obtained 4 biological offspring through intracytoplasmic sperm injection, all of which were boys, and one of them was a twin.Three male infertile patients might be caused by SUN5 gene mutations. Such patients could obtain their biological offspring through assisted reproductive technology. It was still necessary to pay attention to the genetic risk of ASS, it was recommended that both men and women conduct genetic counseling and screening at the same time. In clinical diagnosis, whole exome sequencing technology could be used to perform auxiliary examinations to determine the treatment plan and assisted reproductive methods as soon as possible to reduce the burden on the family and society. The newly discovered mutation sites of SUN5 gene provided clues and directions for elucidating the pathogenic mechanism, and at the same time expanded the pathogenic mutation spectrum of ASS.
Subject(s)
Female , Humans , Male , Pregnancy , Infertility, Male/genetics , Membrane Proteins/genetics , Mutation , Sperm Injections, Intracytoplasmic , SpermatozoaABSTRACT
<p><b>OBJECTIVE</b>To compare the outcomes of intracytoplasmic sperm injection (ICSI) with retrieved epididymal and testicular sperm for obstructive azoospermia and with ejaculated sperm for severe oligozoospermia and asthenospermia.</p><p><b>METHODS</b>We retrospectively analyzed 431 ICSI cycles, which were divided according to sperm sources into Groups A (n=287 in patients with severe oligozoospermia or asthenospermia using ejaculated sperm), B (n=109 in obstructive azoospermia patients with sperm retrieved by percutaneous epididymal sperm aspiration, PESA) and C (n=35 in obstructive azoospermia patients with sperm retrieved by testicular sperm extraction, TESE). Comparisons were made among the three groups in the rates of embryo implantation, fertilization, pregnancy, cleavage, and miscarriage.</p><p><b>RESULTS</b>Group A showed statistically significant differences from Groups B and C in the rates of embryo implantation and pregnancy (18.46% vs. 25.23% and 28.76%, 31.23% vs. 42.16% and 39.39%, P < 0.05). But no significant differences were seen in the rates of fertilization, cleavage and miscarriage among the three groups (P > 0.05).</p><p><b>CONCLUSION</b>The rates of embryo implantation and clinical pregnancy are higher in patients with obstructive azoospermia than in those with severe oligozoospermia or asthenospermia after ICSI with ejaculated sperm.</p>