Background: To examine the effects of dehydroepiandrosterone (DHEA) on in vitro fertilization (IVF) intracytoplasmic sperm injection (ICSI) and the levels of follicular fluid (FF) markers, namely, anti-Müllerian hormone (AMH), insulin-like growth factor (IGF)-1, bone morphogenetic protein (BMP)-15, and growth differentiation factor (GDF)-9, in patients with diminished ovarian reserves (DORs). Methods: 116 patients with DOR were randomized into two groups, DHEA group and control group. Each group contained 58 patients. The DHEA group received 75 mg/d of DHEA for 12 weeks prior to the start of IVF treatment, while the control group entered IVF treatment directly. All patients were treated with the same ovarian stimulation protocol. The primary outcome was high-quality embryo yield. Other IVF parameters, such as the clinical pregnancy rate, embryo survival rate, and intact blastomere rate, were compared between the two groups. FF samples from patients of both groups were collected to measure the levels of AMH, IGF-1, DHEA-sulfate, BMP-15, and GDF-9. Blood was also collected on day 3 of the menstrual cycle to define the baseline hormonal profile and to examine ovarian reserve markers. Results: The high-quality embryo yield was higher in DHEA group than that in control group (P = 0.033). AMH and IGF-1 concentrations in FF were significantly higher in DHEA group than that in the control group (2.83 ± 1.14 ng/L vs. 1.37 ± 0.55 ng/L, P = 0.000; 94.02 ± 38.28 ng/L vs. 74.03 ± 25.46 ng/L, P = 0.004, respectively). The BMP-15 level was also higher in DHEA group (relative expression were 1.80 ± 0.41) than that in control group (relative expression were 0.79 ± 0.16, P < 0.0001); however, there was no difference in GDF-9 expression between the two groups (relative expression were 1.29 ± 0.54 and 1.16 ± 0.50 respectively, P > 0.05) and in the clinical pregnancy rate between the two groups (13.79% vs. 7.27%, respectively, P > 0.05). Conclusions: In women with DOR undergoing IVF treatment, pretreatment with DHEA may increase the number of high-quality embryos, which may be due to increased levels of AMH, IGF-1, and BMP-15 in the FF. Trial Registration: NCT02866253.

Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method. Methods: A total of 153 Han Chinese women with sporadic POI were systematically analyzed for trinucleotide repeats within the FMR1 gene. We employed an improved strategy to screen for cytosine-guanine-guanine repeats in the 5' untranslated region of the FMR1 gene. Before using the previously reported FragilEase polymerase chain reaction (PCR) method for premutation identification, we developed a new cost-effective PCR-based method to exclude most of the normal allele carriers during the initial screening stage. Results: In our initial screening, 62.1% of women with POI were found to carry heterozygous normal alleles of FMR1, which were recognized by our sensitive and cost-effective method. The remaining women were further screened for the presence of the FMR1 premutation. We identified a Han Chinese woman with a premutation allele of FMR1 out of 153 sporadic POI women (0.7%). Conclusions: The frequent FMR1 premutation in Caucasian individuals with POI may not be a common genetic cause of sporadic POI in the Han Chinese population.

DNA methylation and histone modification are two of the most characterized epigenetic modifications. With advanced detecting techniques, particularly single-cell sequencing, we can dissect epigenomic patterns and their regulatory roles in the growth and differentiation of gametes and early embryos in animals and humans. Assisted reproductive technology (ART) procedures have been shown to influence the methylation of certain genes. Aberrant epigenetic regulation may cause several developmental disorders and clinical diseases. Here, we describe some concepts in epigenetics and review recent researches on DNA methylation and the histone modification profile and their regulatory roles during early embryo development. We also summarize the recent progress in understanding the imprinting disorders associated with ART procedures.

Long noncoding RNAs (lncRNAs) are transcribed by RNA molecules, which are longer than 200 nucleotides that lack an open reading frame of significant length and possess no obvious protein-coding capacity. Studies have shown that lncRNAs participate in many physiological processes such as gene imprinting and X chromosome inactivation. They regulate gene expression mainly through DNA methylation, histone modification, and chromatin remodeling. LncRNAs can also affect the development of diseases, and they can be useful to diagnose and treat diseases. With the development of new sequencing and microarray techniques, hundreds of lncRNAs involved in spermatogenesis have been identified, but their functions in the testis are undefined. Herein, we will discuss the biology and regulation of lncRNAs, as well as the bioinformatics tools and searchable databases used to study them in the testis. We hope that this information will provide new insights in treating male reproductive diseases.

Long noncoding RNAs (lncRNAs) are functional RNA molecules which are longer than 200 nucleotides in length that do not encode proteins; instead, they regulate target gene expression at transcriptional, posttranscriptional, and epigenetic levels. LncRNAs play important roles in various biological processes such as dosage compensation, genomic imprinting, cell cycle regulation, and cell differentiation. Although their characterizations have been relatively straightforward with recent advances in modern biology, the functions of lncRNAs are largely unknown. Herein, we discuss the biological functions and research methods of lncRNAs.

We have recently witnessed the rapid development of various single-cell sequencing technologies. Pioneering single cell assays are now available for the profiling of genome, epigenome, and transcriptome. Single-cell sequencing technologies provide multi-dimensional information on early embryonic development in humans and in clinical contexts where specimens are scarce. Here, we review several available techniques and their applications in reproductive medicine. Continuing development of multimodal single-cell sequencing measurement techniques in combination with multi-omics assays will provide comprehensive profiles of an individual cell and lead to the targeted therapy for reproductive disorders and infertility.

Decidual immune cells (DICs), including T-cells, regulatory T-cells, macrophages/dendritic cells, natural killer cells, and neutrophils, are resident at the maternal–fetal interface, and play vital roles in regulating trophoblast migration, decidual angiogenesis, immune tolerance, placentation, and decidualization during the early pregnancy. Extensive researches have revealed that these maternal DICs cooperated with each other, or with maternal decidual stromal cells, or with fetal-derived trophoblasts, and further formed a special maternal-fetal cross talk at the maternal-fetal interface, which was essential for the construction and maintenance of physiological pregnancy. Once aberrant cross talk and immune regulation arise, many pregnancy complications will inevitably occur, such as spontaneous abortion, intrauterine growth restriction(IUGR), preeclampsia (PE), and preterm birth. Here, we reviewed how critical immune cells are either enriched or excluded from the decidua, how their function is regulated within the decidua, and how they variously contribute to pregnancy success or failure.

Fertility disorders have become a growing problem worldwide. It is well known that female fertility decreases with age, previous studies suggested that the age-related decline in female fertility potential was largely due to decrease in oocyte quality and mitochondrial dysfunction. Mitochondria play a crucial role during the process of oocyte maturation. Mitochondrial genetic, numerical and structural defects occur in oocyte aging process, mitochondrial abnormalities are believed to contribute to age-related infertility. Improvement of the mitochondrial function can lead to better fertility outcomes, and application of mitochondria replacement strategy or mitochondrial transfer to age-related infertility will be possible in the future. This review paper, we are trying to discuss current understanding about age-related changes in oocyte quality and mitochondrial dysfunction.

Endometriosis is a common benign gynecological disorder with an enigmatic etiology and pathogenesis. It affects approximately 10% women of reproductive age. Although its etiology and pathogenesis remain poorly understood, it is characterized by the elevated local production of estrogen in the endometriotic tissues. In this paper, we review the mechanisms of estrogen biosynthesis and its regulation in endometriosis.