MBOAT1 homozygous missense variant causes nonobstructive azoospermia / 亚洲男科学杂志(英文版)

Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of MBOAT1 in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men. Our data identified homozygous variants of the MBOAT1 gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.

Impact of elevated basal follicle-stimulating hormone on the quantity and quality of oocytes and embryos and pregnancy outcomes in young women / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the effect of elevated basal follicle-stimulating hormone (FSH) on both the quantity and quality of oocytes and embryos and the clinical outcomes of pregnancy in women under 35 years of age.</p><p><b>METHODS</b>A retrospective analysis was conducted for inspecting 294 in vitro fertilization-embryo transfer (IVF-ET) cycles in women under 35 years of age. According to the basal FSH levels, the women were divided into groups A, B, and C with basal FSH of 10-14.99, 15-19.99 and ≥20 IU/L, respectively, to compare the average number of oocytes retrieved, morphologies of the oocytes and embryos, and clinical outcomes of pregnancy.</p><p><b>RESULTS</b>Group A showed greater average numbers of oocytes collected, total embryos and good-quality embryos with a lower gonadotrophin dose required to achieve follicular maturity than groups B and C. The 3 groups showed no significant differences in the percentage of metaphase II oocytes, optimal embryos-blastomere number, normal fertilization rate, cleavage rate, good-quality embryo rate, implantation rate, pregnancy rates, live birth rate or miscarriage rate, but the pregnancy rates and live birth rate tended to decrease in women with basal FSH ≥15 U/L.</p><p><b>CONCLUSION</b>In women below 35 years of age, an elevated serum FSH (especially one ≥15 U/L) indicates diminished ovarian reserve and reduced numbers of oocyte and embryo but not poor oocyte or embryos quality, and good clinical pregnancy rate can still be expected.</p>

Prediction of ovarian reserve, poor response and pregnancy outcome based on basal antral follicle count and age in patients undergoing in vitro fertilization-embryo transfer / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the value of basal antral follicle count (AFC) and age in predicting ovarian response and clinical outcome of in vitro fertilization-embryo transfer (IVF-ET).</p><p><b>METHODS</b>A total of 1319 oocyte retrieval cycles in women with an AFC≤10 and complete IVF/ICSI cycles were analyzed retrospectively. According to the AFC, the patients were divided into groups A, B, and C with AFC≤4, of 5-7, and of 8-10, respectively, and each was further divided into <38 years old group and ≥38 years old group. The oocytes retrieved, ovarian response, implantation rate, cancellations, pregnancy, pregnancy loss, and live births were evaluated.</p><p><b>RESULTS</b>As the AFC increased, the total gonadotrophin (Gn) dose increased and the follicles aspirated and oocytes retrieved decreased significantly (P<0.001). Patients below 38 years of age had a lower total Gn dose and more follicles aspirated and oocytes retrieved than older patients. An AFC>7 and age≥38 years was associated with significantly lower total Gn dose, greater number of follicles aspirated and oocytes retrieved, and lower pregnancy rate than an AFC≤7 and age<38 years (P<0.05). Bivariate correlation and linear regression analysis identified AFC as the best single predictor of ovarian response in IVF. The pregnancy rate differed significantly between the 3 groups, and older patients (≥38 years) had higher early miscarriage rate.</p><p><b>CONCLUSION</b>Antral follicle count≤7 or age≥38 years old with AFC≤10 is the suitable threshold of diminished ovarian reserve in controlled ovarian stimulation for infertile women. Combination of AFC and age is the best predictor of ovarian response in IVF. Age has a better predictive value of pregnancy rate than AFC. AFC influences mainly the oocytes quantity, while age also affects oocyte quality.</p>

In vitro fertilization versus intracytoplasmic sperm injection for primary and secondary infertility using sibling oocytes: clinical analysis of the outcomes / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the clinical outcomes of intracytoplasmic sperm injection (ICSI) and conventional in vitro fertilization (IVF) using sibling oocytes for treatment of primary and secondary infertility.</p><p><b>METHODS</b>A total of 149 cycles of IVF and ICSI were conducted between January, 2003 and December, 2008 in our center, including 98 cycles in patients with primary infertility and 51 in those with secondary infertility. According to the embryos derived from ICSI, IVF and their combination, the clinical pregnancy rate, delivery rate and birth defect of the 3 groups were analyzed.</p><p><b>RESULTS</b>The fertilization failure rate of IVF was significantly higher in primary infertility group than in secondary infertility group (10.2% vs 3.9%, P<0.05). No fertilization failure occurred in ICSI group. The fertilization rates and good quality embryo rates in ICSI group were significant higher than those in IVF group, and the abnormal fertilization rate was significantly lower in ICSI group (P<0.05). No significant difference were found in the implantation rates, clinical pregnancy rates, delivery rates or the rates of birth defects of the offsprings between IVF, ICSI and IVF+ICSI groups.</p><p><b>CONCLUSION</b>IVF combined with ICSI may result in increased fertilization rate and avoid total fertilization failure with favorable clinical outcomes in patients with long-term infertility, and ICSI may not increase the birth defects of the offspring in these patients.</p>

Clinical outcomes and birth defects resulting from intracytoplasmic sperm injection using sperms of different origins and parameters / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the quality of the embryos, clinical outcomes and birth defects resulting from intracytoplasmic sperm injection (ICSI) treatment using sperms of different origins and parameters.</p><p><b>METHODS</b>A total of 980 ICSI-ET (embryo-transfer) cycles were divided into 4 groups, namely normal sperm or mild oligozoospermia group (group A), severe oligozoospermia group (group B), epididymal aspirates group (group C) and testicular biopsies group (group D). The cleavage rate, embryo quality, fertilization rate, clinical pregnancy rate, and rates of birth defects were compared between the groups.</p><p><b>RESULTS</b>The fertilization rate, cleavage rate and good-quality embryo rate were not significantly different among the 4 groups (P>0.05), and the embryo implantation rate and clinical pregnancy rate were significantly higher in group C than in groups A and B (P<0.05). Groups A, B and C showed no significant differences in the rates of birth defects (P>0.05), and no birth defects occurred in group D.</p><p><b>CONCLUSIONS</b>Sperms of different parameters and origins used in ICSI treatment can achieve similar fertilization rate, good-quality embryo rate and delivery rate. The embryo implantation rate and clinical pregnancy rate of epididymal sperm group are higher than those of ejaculated groups, possibly due to the younger age of the patients and a greater number of oocytes retrieved in group C than in groups A and B.</p>