Differences in clinical outcomes between men with mosaic Klinefelter syndrome and those with non-mosaic Klinefelter syndrome.

Purpose: This study compared the clinical outcomes of men with Klinfelter syndrome based on karyotype. Methods: The authors analyzed the outcomes of microdissection testicular sperm extraction (micro-TESE) performed on 57 patients with Klinfelter syndrome (KS) at our clinic. Results: The average ages of the non-mosaic and mosaic KS groups were 32.2 ± 4.8 and 45.9 ± 13.1 years, respectively. The sperm retrieval rates of the non-mosaic and mosaic KS groups were 46.5% (20/43) and 50.0% (7/14), respectively. The fertilization rates after intracytoplasmic sperm injection did not significantly differ between the non-mosaic and mosaic KS groups. The mosaic KS group had higher cleavage and blastocyst development rates than the non-mosaic KS group (72.2% vs. 96.2% and 30.5% vs. 44.7%, respectively). The group using motile sperm had better outcomes than the group using immotile sperm. The embryo transfer outcomes of the non-mosaic and mosaic KS groups did not significantly differ (clinical pregnancy rate: 28.0% vs. 20.7%, miscarriage rate: 14.3% vs. 33.3%, production rate per transfer: 22.0% vs. 13.8%, and production rate per case: 58.8% vs. 57.1%). Conclusions: Compared with the non-mosaic KS group, the mosaic KS group had significantly better intracytoplasmic sperm injection outcomes because of the higher utilization rate of motile sperm.

Masked high progesterone levels during in vitro fertilization and embryo transfer treatment in a patient with 21-hydroxylase deficiency: A case report.

The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (21OHD). Women with 21OHD have reduced fertility because of excessive production of adrenal androgen and progesterone, which can inhibit folliculogenesis, disturb the normal gonadotropin secretion pattern and development of the endometrium, and affect endometrial receptivity. Here, we report on an infertile woman with 21OHD who initially showed normal progesterone levels and spontaneous ovulation with the treatment by an endocrinologist. However, in vitro fertilization and embryo transfer repeatedly failed because of a gradual elevation in progesterone, which was masked by fertility treatment. The case underlines that close coordination is required between the endocrinologist and reproductive specialist for the total treatment for woman with 21OHD.

A retrospective analysis of ovarian response to gonadotropins after laparoscopic unilateral or bilateral salpingectomy for hydrosalpinges.

BACKGROUND AND AIMS: We compared the effects of unilateral and bilateral salpingectomy for hydrosalpinx on ovarian function, oocyte retrieval, and embryogenesis. METHODS: We retrospectively examined the hospital records of 109 women with unilateral hydrosalpinx and 57 women with bilateral hydrosalpinges who had undergone in vitro fertilization (IVF) treatment (280 oocyte retrieval cycles) between January 2011 and December 2018. We compared age at oocyte retrieval, level of anti-Müllerian hormone (AMH) measured within 1 year of oocyte retrieval, duration of infertility, number of previous IVF treatments, level of follicle stimulating hormone, total gonadotropin dose, number of oocytes retrieved, fertilization rate, blastocyst formation rate, and peak serum estrogen concentration. This study was approved by the institutional review board. RESULTS: Of the women with unilateral hydrosalpinx, no significant differences were observed in ovarian response, rate of fertilization or rate of blastocyst production between the 21 women (24 cycles) who had undergone unilateral salpingectomy and the 88 women (146 cycles) who had not. Of the women with bilateral hydrosalpinges, the 13 (24 cycles) who had undergone bilateral salpingectomy had slightly lower AMH levels and significantly fewer oocytes retrieved (5.5 ± 3.9 vs 8.3 ± 5.5; P = .0068) than the 44 women (86 cycles) who had not had a salpingectomy. Women who had undergone bilateral salpingectomy also had significantly lower peak serum estrogen concentrations than those who had not undergone salpingectomy (1876.1 ± 765.9 vs 2489.5 ± 1551.4; P = .009). CONCLUSION: In women with hydrosalpinx, bilateral salpingectomy may reduce ovarian function and response to gonadotropins, especially the number of oocytes retrieved. Unilateral salpingectomy does not have these effects.

Piezo-assisted ICSI improves fertilization and blastocyst development rates compared with conventional ICSI in women aged more than 35 years.

PURPOSE: Piezo-assisted intracytoplasmic sperm injection (Piezo-ICSI) is reported to be an effective method for inseminating fragile oocytes compared with conventional ICSI (c-ICSI). However, infertile patient groups suitable for Piezo-ICSI have not been elucidated. This study was conducted to determine age groups suitable for Piezo-ICSI using sibling egg controls inseminated by a well-trained embryologist to reduce technical inequalities. METHODS: A total of 947 matured oocytes were inseminated either by Piezo-ICSI or by c-ICSI in sibling oocytes as controls. Fertilization (2 pronuclei, PN), survival, and blastocyst development rates on day (D) 5 and D6 after insemination were compared between the Piezo-ICSI and c-ICSI groups. Further analyses were applied to groups of women >35 or ≤35 years of age. RESULTS: There were no significant differences in fertilization, survival, or blastocyst development rates between the two insemination treatment groups. However, for women >35 years of age, the fertilization (P = .008) and blastocyst development (P = .016) rates with Piezo-ICSI on D5 and D6 were significantly higher than in those subjected to c-ICSI. CONCLUSIONS: Piezo-ICSI was useful for inseminating oocytes from women >35 years of age.

Is human chorionic gonadotropin supplementation beneficial for frozen and thawed embryo transfer in estrogen/progesterone replacement cycles?: A randomized clinical trial.

Aim: Human chorionic gonadotropin (hCG) is used frequently for luteal support in fresh in vitro fertilization cycles as it induces progesterone secretion from the ovaries after oocyte retrieval and modulates the endometrium for implantation in fresh cycles. In contrast, hCG is not usually used for the transfer of cryopreserved-thawed embryos in estrogen/progesterone replacement cycles because ovulation is suppressed. However, several studies have shown that luteinizing hormone and hCG receptors are present in the human endometrium and that hCG can directly induce the decidualization of endometrial stromal cells in vitro. Thus, this study evaluated whether hCG supplementation can be beneficial for cryopreserved-thawed embryo transfer in estrogen/progesterone replacement cycles. Methods: One-hundred-and seventy-three cryopreserved-thawed embryo transfer cycles with estrogen/progesterone replacement were divided randomly into two groups. Transdermal oestradiol was used in combination with vaginal progesterone suppositories for HR. The embryo transfer was performed on day 17 and/or day 20 of the HR therapy cycle in both groups. In Group A, 3000 IU of hCG was administered on days 17, 20, and 23. In Group B, hCG was not used. Results: There was no significant difference in the average age of the patients, the average number of previous assisted reproductive technology cycles, or the average number of embryo transfers between the two groups. The rates of pregnancy and implantation per embryo were 37.2% and 25.3%, respectively, in Group A and 35.6% and 21.7%, respectively, in Group B. The pregnancy and implantation rates were similar in both groups. Conclusion: Supplementation with hCG is not beneficial for cryopreserved-thawed embryo transfer in estrogen/progesterone replacement cycles.

Population structuring of the ubiquitous stingless bee Tetragonisca angustula in southern Brazil as revealed by microsatellite and mitochondrial markers.

Tetragonisca angustula is one of the most widespread stingless bees in the Neotropics. This species swarms frequently and is extremely successful in urban environments. In addition, it is one of the most popular stingless bee species for beekeeping in Latin America, so nest transportation and trading is common. Nest transportation can change the genetic structure of the host population, reducing inbreeding and increasing homogenization. Here, we evaluate the genetic structure of 17 geographic populations of T. angustula in southern Brazil to quantify the level of genetic differentiation between populations. Analyses were conducted on partially sequenced mitochondrial genes and 11 microsatellite loci of 1002 workers from 457 sites distributed on the mainland and on 3 islands. Our results show that T. angustula populations are highly differentiated as demonstrated by mitochondrial DNA (mtDNA) and microsatellite markers. Of 73 haplotypes, 67 were population-specific. MtDNA diversity was low in 9 populations but microsatellite diversity was moderate to high in all populations. Microsatellite data suggest 10 genetic clusters and low level of gene flow throughout the studied area. However, physical barriers, such as rivers and mountain ranges, or the presence or absence of forest appear to be unrelated to population clusters. Factors such as low dispersal, different ecological conditions, and isolation by distance are most likely shaping the population structure of this species. Thus far, nest transportation has not influenced the general population structure in the studied area. However, due to the genetic structure we found, we recommend that nest transportation should only occur within and between populations that are genetically similar.

Frequency of Sperm DNA Fragmentation According to Selection Method: Comparison and Relevance of a Microfluidic Device and a Swim-up Procedure.

INTRODUCTION: Multiple rounds of centrifugation or washing spermatozoa can cause sperm DNA fragmentation (SDF); however, a microfluidic approach to select spermatozoa does not require centrifugation. Reports have suggested that sperm sorting using a microfluidic device is an effective method to select good quality spermatozoa, however, it is not known whether it reduces sperm DNA damage. We investigated whether the frequency of SDF was affected by selection method during sperm processing. MATERIALS AND METHODS: Semen samples from ten men with normal, oligozoospermia and asthenozoospermia were split into two groups and sorted using a microfluidic device or by a swim-up method. Subsequently, semen parameters and SDF were measured and analyzed using paired or non-paired Student's t-tests. RESULTS: For samples sorted by the microfluidic device (Sperm Sorter Qualis(®); Menicon, Kasugai, Japan) or the swim-up method, both showed a decrease in SDF. However, the decrease was more significant when the microfluidic device was used. CONCLUSION: Sorting using the microfluidic device resulted in less SDF than did the swim-up method.

Expression of human oocyte-specific linker histone protein and its incorporation into sperm chromatin during fertilization.

OBJECTIVE: To investigate the expression of oocyte-specific linker histone protein (hH1FOO) in human ovaries and its incorporation into sperm chromatin after intracytoplasmic sperm injection (ICSI). DESIGN: Laboratory study. SETTING: University hospital. PATIENT(S): Human ovarian tissues were obtained from patients at oophorectomy. Human oocytes and embryos were obtained from infertile patients undergoing IVF and ICSI. INTERVENTION(S): A polyclonal rabbit antibody targeting the predicted hH1FOO protein was used for immunohistochemical analysis. Western blot analysis and the reverse transcriptase-nested polymerase chain reaction were done to detect hH1FOO in chromatin of germinal vesicle-stage oocytes through to two-cell embryos. MAIN OUTCOME MEASURE(S): The hH1FOO antibody reactivity of oocytes, ovarian tissues, and sperm chromatin after ICSI. RESULT(S): hH1FOO protein was localized in all oocytes from primordial to Graafian follicles. In unfertilized oocytes after ICSI, the chromatin of injected sperm was condensed without hH1FOO incorporation in 45.5% of oocytes, condensed with hH1FOO incorporation in 9%, and decondensed with hH1FOO incorporation in 45.5%. None of the oocytes contained decondensed sperm chromatin without hHFOO incorporation. CONCLUSION(S): hH1FOO protein was expressed by human oocytes from primordial follicles to early embryogenesis. Sperm nuclei that were still condensed after ICSI could be separated into two categories by hH1FOO incorporation, which might provide valuable information regarding failed fertilization.

Elimination of HIV-1 from semen and application of the processed semen to assisted reproductive technology.

As HIV infection is becoming a controllable chronic infection after the introduction of the highly active antiretroviral therapy (HAART), patients with this infection are now able to make plans for the future. Numerous serodiscordant (HIV-positive men and HIV-negative women) couples seek medical assistance to have a child with minimum risk to the HIV-negative female partner and the child using processed (washed) sperm. HIV-1 elimination from the semen using density gradient centrifugation and the swim-up procedure, which is a standard processing procedure, depends on both sperm motility and the physical properties of the virus-containing particles. To establish a simple method for recovering sperm from poor quality semen, we developed the tilted-tube rotation method to generate a continuous density gradient, and using this continuous density gradient we have succeeded in recovering motile sperm, even from the semen of seropositive males with severe male factors. This review aims to summarize the recent progress in the underlying principles and technical aspects of semen processing for elimination of HIV-1. (Reprod Med Biol 2007; 6: 151-156).

Global gene expression profiling of preimplantation embryos.

Preimplantation development is marked by four major events: the transition of maternal transcripts to zygotic transcripts, compaction, the first lineage differentiation into inner cell mass and trophectoderm, and implantation. The scarcity of the materials of preimplantation embryos, both in size (diameter < 100 microm) and in quantity (only a few to tens of oocytes from each ovulation), has hampered molecular analysis of preimplantation embryos. Recent progress in RNA amplification methods and microarray platforms, including genes unique to preimplantation embryos, allow us to apply global gene expression profiling to the study of preimplantation embryos. Our gene expression profiling during preimplantation development revealed the distinctive patterns of maternal RNA degradation and embryonic gene activation, including two major transient waves of de novo transcription. The first wave corresponds to zygotic genome activation (ZGA). The second wave, mid-preimplantation gene activation (MGA), contributes dramatic morphological changes during late preimplantation development. Further expression profiling of embryos treated with inhibitors of transcription or translation revealed that the translation of maternal RNA is required for the initiation of ZGA, suggesting a cascade of gene activation from maternal RNA/protein sets to ZGA gene sets and thence to MGA gene sets. To date, several reports of microarray experiments using mouse and human preimplantation embryos have been published. The identification of a large number of genes and multiple signaling pathways involved at each developmental stage by such global gene expression profiling accelerates understanding of molecular mechanisms underlining totipotency/pluripotency and programs of early mammalian development.