Journal of International Reproductive Health/Family Planning

Exploration of Microbiome and Transcriptome of Stricture Fibrosis after Hypospadias Surgery

WANG Xin, ZHANG Zhen-hua, ZHANG Dong-zheng, GUAN Yong, ZHAN Jiang-hua

2025, 44 (3): 177-183. doi: 10.12280/gjszjk.20240501

Abstract ( 243 )

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Objective: To evaluate the relationship between urethral stricture and the urethral microenvironment following hypospadias surgery. Methods: Fifteen children who did not experience urethral stricture and 15 children who experienced urethral stricture within one year after hypospadias surgery were selected in this study, with similar clinical and follow-up data from January 2020 to December 2023. The urethral tissues were divided into three groups. The normal urethral tissues trimmed during initial treatment, from 15 children who did not develop urethral stricture within one year post-surgery, were categorized as the control normal tissue(CT) group. The normal tissues trimmed during the first treatment, from 15 children who developed urethral stricture within the same timeframe, were classified as the pre-stricture tissure (PST) group. The stricture urethral tissues trimmed during the subsequent surgical treatment, from the same 15 children with urethral stricture, were designated as the stricture tissue (ST) group. We explored the microbiome characteristics of the three groups using 16S rRNA sequencing, while transcriptome characteristics of the CT and ST groups were analyzed through transcriptome sequencing. A joint analysis was conducted to clarify the correlation between microbiome and transcriptome data. Results: The abundance of microbial colonies in the CT group was higher than that in the ST group, and there was no significant difference in this parameter between the ST group and the PST group. The microbial genera with the notable differences between the CT group and the ST group were included Muribacaceae, Prevotella, Peptoniphilus, Ezakiella, Escherichia, Bacteroides, Lachnospira, Lactobacillus, Dialister and Alistipes. A total of 1 413 differentially expressed genes were identified between the CT group and the ST group, with 1 060 genes (75.02%) upregulated and 353 genes (24.98%) downregulated in the ST group compared to the CT group. Integrated analysis suggested that transforming growth factor-β (TGF-β) and Smad4 may be associated with Escherichia coli. Conclusions: The imbalance in microbiota may contribute to urethral stricture, with a high abundance of Escherichia coli potentially inducing the stricture formation through the TGF-β/Smad signaling pathway.

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Detection Rate of Depression Symptoms during in Vitro Fertilization-Embryo Transfer Treatment in Chinese Infertile Women: A Meta-Analysis

LI Miao, LI Xi-xi, CHENG Min, LIU Hang-cheng

2025, 44 (3): 184-191. doi: 10.12280/gjszjk.20240574

Abstract ( 90 )

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Objective: To systematically evaluate the detection rate of depression symptoms in infertile women during in vitro fertilization-embryo transfer (IVF-ET) treatment in China, so as to provide the relevant evidence for early prevention and intervention. Methods: The databases were used, including CNKI, Wanfang Data, VIP, CBM, PubMed, Web of Science, Cochrane Library, Embase and PsycINFO. Subject headings and free words were used to search the studies on the detection rate of depression symptom in Chinese infertile women during IVF-ET treatment. The search time was from the establishment of the database to March 2024. Two researchers independently screened the literature, extracted data and assessed the risk of bias of the included studies. Stata 17.0 software was used to analyze the data. Results: A total of 24 studies involving 12 201 subjects were included. The results of Meta-analysis showed that the detection rate of depression symptom during IVF-ET treatment in infertile women in China was 30.4% (95%CI: 26.0%-34.8%). Subgroup analysis showed that those infertile women living in northeast China, with the education level of junior high school or below, monthly family income<3 000 yuan, duration of infertility>6 years, duration of marriage>8 years, the first day of treatment, depression screening scale after 2019, and the use of Beck depression inventory Ⅱ Chinese version (BDI-Ⅱ-C) had higher detection rates of depression symptom (all P<0.05). Conclusions: The detection rate of depressive symptom during IVF-ET treatment in infertile women in China is high, which suggests that attention should be paid to the psychological status of infertile women, and that appropriate preventive and interventional measures should be formulated for the high-risk groups.

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The Effectiveness of Four Commonly Used Oral Nutraceuticals in Improving the Sperm Quality in Male Infertility: A Network Meta-Analysis

WANG Heng-yang, HU Rong, FAN Wei, ZHANG Li-hong, ZHANG Zhi-gang

2025, 44 (3): 192-200. doi: 10.12280/gjszjk.20240629

Abstract ( 176 )

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Objective: To evaluate the efficacy of oral nutritional supplements, including coenzyme Q10 (CoQ10), vitamin E, inositol, and vitamin D, in improving sperm concentration, motility, morphology, count, and semen volume in male infertility patients, by a network Meta-analysis. Methods: Search PubMed, Web of Science, the Cochrane Library databases, CNKI, Wanfang Data, VIP and SinoMed from their inception to September 1, 2024. All of randomized controlled trials that evaluate the effects of oral nutritional supplements on male infertility patients were included in this network Meta-analysis. Results: A total of 13 studies involving 1 094 infertile men were included in this research. Inositol (MD=3.88, 95%CI: 0.59-7.17) significantly improved the sperm concentration, compared to placebo. CoQ10 (MD=6.45, 95%CI: 3.23-9.67); and inositol (MD=5.99, 95%CI: 1.91-10.08) successfully enhanced sperm motility. CoQ10 (MD=1.98, 95%CI: 1.29-2.68) and vitamin D+Ca (MD=-0.70, 95%CI: -1.29--0.11) effectively improved sperm morphology, while CoQ10 (MD=13.84, 95%CI: 1.49-26.19) successfully increased sperm count. Vitamin D+Ca (MD=0.40, 95%CI: 0.30-0.46) improved semen volume. No significant differences were observed between the vitamin D and vitamin E groups and the placebo group for the five target parameters. Conclusions: CoQ10, inositol, and vitamin D+Ca were demonstrated the better effects in improving semen quality in male infertility patients.

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A Case of Mental Retardation, Autosomal Dominant 53 Related to CAMK2A Gene Variant

HAO Chong-yang, LIU Wan-chao, JIN Zi-he, LIU Li-ying, WANG Mei-ling, WANG Rong

2025, 44 (3): 201-203. doi: 10.12280/gjszjk.20240637

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CAMK2A gene variation can cause the mental retardation, autosomal dominant 53 (MRD53), which can be clinically manifested as epilepsy, developmental retardation, intellectual impairment and behavioral abnormalities. There are few reports at home and abroad. We report a case of MRD53 child who was treated for epileptic seizures and behavioral abnormalities. Gene sequencing indicated a missense mutation of the CAMK2A gene c.775C>T(p.Arg259Cys). The mutation site was chromosome 5, and exon 11 changed from cytosine (C) to thymine (T). It caused a change at the amino 259 site of the coded protein from arginine to cysteine [p.R259C(p.Arg259Cys)(NM_001363989)]. Neither of the parents has any mutation. This mutation is a new mutation, which may lead to MRD53. Currently, there is no specific drug treatment for MRD53. The symptomatic supportive treatment is the primary method, including strict control of diet, mood and medication, and paying attention to the cultivation of physical and mental health of children. Further research on the genetics, treatment and prognosis of this disease may be a key direction for future studies.

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Genetic Analysis of A Case of δ Thalassemia

ZHUANG Qian-mei, LIU Chun-qiang, YAN Mei-zhen, WANG Geng

2025, 44 (3): 204-206. doi: 10.12280/gjszjk.20240603

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A rare case of delta-thalassemia gene mutation was reported. Blood routine examination showed that both mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were decreased, and that hemoglobin (Hb) was in critical value. Hemoglobin electrophoresis showed that hemoglobin A₂ (HbA₂) was decreased significantly. The common alpha and beta thalassemia gene test suggested --^SEA/αα. Due to the significant decrease of HbA₂, the suspected carriers of hemoglobin subunit delta (HBD) gene were analyzed. Therefore, the HBD mutation types were further analyzed by Sanger sequencing. DNA sequencing revealed that the patient carried Codon98(-GTG;+A) heterozygous mutant gene, the international nomenclature as HBDc.295_297delGTGinsA. The low level of HbA₂ in this case was due to the mutation of HBD. HBDc.295_297delGTGinsA is a rare type of gene mutations in the Chinese population.

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Two Cases of Chromosome Inverted Duplication with Terminal Deletion Syndrome

LI Yi, WEI Xin, LIU Yi, LIU Ji-hong, MU Kai

2025, 44 (3): 207-210. doi: 10.12280/gjszjk.20240502

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Chromosomal abnormalities are a major cause of the structural anomalies detected during early fetal ultrasound screening. We report two cases of early fetal nuchal translucency (NT) abnormalities linked to chromosomal copy number variations (CNVs) and their origins. G-banding karyotype analysis was conducted on amniotic fluid cells of the fetuses and the peripheral blood of their parents, supplemented by single nucleotide polymorphism array (SNP-array) analysis of fetal amniotic fluid cells. For case 1, karyotype analysis revealed 46,Xn,der(4)del(4)(q35.2)dup(4)(q35.2q26), and the SNP-array results identified terminal deletion with partial inversion duplication on chromosome 4q, confirming 4q inversion duplication with terminal deletion syndrome. For case 2, the karyotype was 46,Xn,der(X)del(X)(p22.23)dup(X)(p22.31p11.1), and SNP-array analysis detected a 49.414 Mb duplication in the Xp22.31p11.1 region, consistent with Xp inversion duplication with terminal deletion syndrome. Both cases were de novo mutations. The integration of karyotype and SNP-array analyses successfully determined the genetic causes of NT abnormalities in these cases, providing a solid foundation for subsequent reproductive guidance.

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Strumal Carcinoid Tumor of the Ovary: A Case Report

YUAN Meng, LI Jun-fen, WU Yue-xiao, YANG Yong-xiu

2025, 44 (3): 211-214. doi: 10.12280/gjszjk.20240515

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Strumal carcinoid tumor of the ovary (SCTO) is an exceptionally rare malignant ovarian tumor that arises secondary to a mature ovarian teratoma. It is characterized by the presence of thyroid tissue and carcinoid components in pathological tissue. The pathogenesis of SCTO is not clear. The patients commonly present with abdominal pain, but the accurate diagnosis dependes on the histopathological evaluation and immunohistochemical analysis due to its rarity and atypical presentation. We report the case of a 43-year-old woman diagnosed with SCTO. She initially presented to an external hospital with the complaints of abdominal pain accompanied by nausea and vomiting. Gynecological ultrasound revealed a pelvic mass, and she was treated with the laparoscopic right-adnexectomy. Histopathological analysis suggested SCTO. The patient was subsequently transferred to our hospital for further treatment. The immunohistochemical analysis confirmed the diagnosis of SCTO. To ensure comprehensive treatment, a subsequent surgical procedure was performed, including total hysterectomy, left salpingo-oophorectomy, high ligation of bilateral ovarian vessels, right pelvic lymphadenectomy, and partial omentectomy. Lymphatic or distant metastasis was not found in the postoperative histopathological examination. The patient did not undergo adjuvant therapy, and remained free of recurrence and metastasis during 8 month follow-up. SCTO diagnosed at an early stage is associated with a favorable prognosis. Therefore, early recognition and timely intervention are essential to improve the outcomes of SCTO patient.

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The Action of ω-3 Polyunsaturated Fatty Acids in Polycystic Ovary Syndrome

LU Feng-juan, CONG Jing, WANG Yu, SHI Bai-chao, GUAN Mu-xin, ZHANG Bei, WU Xiao-ke

2025, 44 (3): 215-219. doi: 10.12280/gjszjk.20240596

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Polycystic ovary syndrome (PCOS) as a reproductive endocrine disorder is more common in the women of puberty and childbearing age, and can induce complications such as infertility, metabolic disorders and cardiovascular disease, which seriously affect the physiological and psychological health of patients. ω-3 polyunsaturated fatty acids (omega-3 PUFAs) are an important group of functional high-value fatty acids derived from vegetable oils or marine fatty fish, with anti-inflammatory, antioxidant, anti thrombotic, and lipid-lowering effects. In recent years, studies have found that supplementing with omega-3 PUFAs can improve hyperandrogenism in patients. It can also improve the metabolic status by regulating insulin resistance, obesity, and dyslipidemia in PCOS patients. In addition, omega-3 PUFAs can effectively inhibit the production of pro-inflammatory cytokines, thereby improving their chronic inflammation and oxidative stress damage status. They can also play an important role in improving the imbalance of gut microbiota in PCOS patients by increasing the abundance of healthy gut microbiota. The application of omega-3 PUFAs in the treatment of PCOS still needs further research.

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The Mechanism of Chinese Medicine Monomers and Compounds in Treatment of Polycystic Ovary Syndrome, Based on PI3K/Akt Signaling Pathway

MA Ying-qi, LI Jia-li, FENG Meng-zhi, SHI Bai-chao, WANG Yu, GAO Jing-shu, WU Xiao-ke

2025, 44 (3): 220-226. doi: 10.12280/gjszjk.20240607

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The pathophysiological process of polycystic ovary syndrome (PCOS) involves multiple dysfunctions such as abnormal insulin signaling pathway and chronic inflammatory response, among which the phosphoinositide-3 kinase/protein kinase B (PI3K/Akt) pathway is an important intracellular signaling pathway. The PI3K/Akt pathway involves in regulating biological processes such as cell growth, proliferation, autophagy and apoptosis. Studies have shown that the abnormal activation of PI3K/Akt signaling pathway is closely related to the pathological processes of insulin resistance (IR), ovarian and /or endometrial dysfunction in PCOS patients. In recent years, traditional Chinese medicine (TCM) has shown unique advantages in the treatment of PCOS. TCM monomers and compound preparations can significantly improve the status of insulin receptor, regulate glucose and lipid metabolism and sex hormone levels, promote follicle development and ovulation, and increase pregnancy rate. It has been found that TCM monomers and compound preparations can effectively regulate the growth, proliferation, autophagy and apoptosis of ovarian granulosa cells by regulating the PI3K/Akt signaling pathway and its downstream target factors. Compared with western medicine, TCM has the advantages of overall regulation and fewer adverse reactions. In order to provide ideas for the treatment of PCOS, and a theoretical reference for the modernization of TCM, we review the research progress of PI3K/Akt signaling pathway in the treatment of PCOS.

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Research Progress of Moxibustion in the Treatment of Female Reproductive Disorders

ZHAO Xue-ru, DOU Zhen, MA Sai-hua, WANG Bao-juan, XIA Tian

2025, 44 (3): 227-231. doi: 10.12280/gjszjk.20240494

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Moxibustion, as a traditional Chinese medicine treatment, has the functions of warming channels and clearing collages, dispelling dampness and dispelling cold, raising Yang and strengthening spleen. It is simple in clinical operation with the exact curative effect, and low cost. In the clinical practice, moxibustion with the point selection methods such as "specimen matching point" is a non-invasive and safe method for the treatment or auxiliary treatment of female reproductive disorders such as polycystic ovary syndrome, endometriosis, early-onset ovarian insufficiency and pelvic inflammatory diseases. Moxibustion therapy has a bidirectional and benign regulatory effect in improving energy metabolism, regulating intestinal flora, anti-inflammation, regulating systemic immunity and other functions, and then interferes with the occurrence and development of female reproductive disorders, which can provide a more innovative reference for clinical treatment.

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The Application of Psychosocial Support in Female Reproductive Disorders

LIU Tong-yao, CHAO Chun-e, TIAN Ning, LI Chen-xue, MA Rui-hong, XIA Tian

2025, 44 (3): 232-235. doi: 10.12280/gjszjk.20240617

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Female reproductive health is crucial for the health of offspring, family harmony, and the prosperity of a nation. Female reproduction encompasses a series of key processes such as fertilization, embryo implantation, embryonic development and maintenance of pregnancy. In recent years, the changes in lifestyle and the increased social stress have led to a high incidence of reproductive disorders in women, making this area a hotspot in current medical research. This review focuses on the association between psychological factors and female reproductive disorders, exploring the role of social and psychological support in improving these conditions. Research indicates that psychological issues such as anxiety and depression are closely linked to reproductive disorders, including polycystic ovary syndrome, recurrent spontaneous abortion, diminished ovarian reserve and infertility. Social psychological support plays a crucial role in alleviating patients′ negative emotions, improving endocrine function, and enhancing pregnancy rates. Psychological interventions, such as cognitive behavioral therapy and mindfulness based stress reduction, have been demonstrated the significant efficacy in clinical practice. With the advancements in internet and artificial intelligence technologies, modes of social psychological support are expected to become more diversified. The evolution of modes will facilitate accessible psychological intervention services for those women with reproductive disorders, and optimize intervention strategies for female reproductive health.

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Therapeutic Role of the Mesenchymal Stem Cell-Derived Exosome in Repairing Endometrial Injury

WEN Bi-chao, MA Yu-zhen

2025, 44 (3): 236-241. doi: 10.12280/gjszjk.20240565

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The endometrium could be damaged during various uterine cavity operations, which manifestes as adhesions and thinning of the endometrium. Endometrial injury can lead to reduced menstrual flow, amenorrhea, and even affect fertility. At present, there are very limited effective treatments for the moderate to severe endometrial injury in clinical practice. Mesenchymal stem cells (MSCs), as a type of stem cell with multipotent differentiation potential, have shown the great potential in tissue repair and regenerative medicine through their differentiation and secretion of MSCs derived exosome. In this article, we elaborate on the treatment effects of various sources of MSCs and MSCs derived exosome on endometrial injury and the underlying mechanisms, and analyze their clinical prospects and research directions, providing new treatment ideas for the clinical treatment of endometrial injury.

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Natural Killer Cells Classification and Relationship with Recurrent Spontaneous Abortion

JI Yong-xuan, ZHAO Hang, ZHANG Ning

2025, 44 (3): 242-246. doi: 10.12280/gjszjk.20240588

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Recurrent spontaneous abortion (RSA) refers to the occurrence of two or more consecutive pregnancy losses before 28 weeks of gestation with the same partner. The RSA pathogenesis is complex, including the immune factor. Previous studies have showed that natural killer (NK) cells are closely related to RSA. There are two hypotheses regarding the origin of NK cells. They may originate from hematopoietic progenitor cells (HPCs) in the endometrium, or produce by the tissue-resident NK (trNK) cells. According to the phenotype and function, NK cells can be divided into multiple subsets and subtypes, each with different functions. During pregnancy, NK cells play important roles, such as regulating trophoblast invasion, participating in materno-fetal immunity, and promoting fetal growth. However, the abnormal functions of NK cells may lead to pregnancy failure. In RSA patients, the overactivity and dysfunction of decidual NK cells, the disordered polarization process and the changed number and cytotoxicity of uterine NK cells, could be closely related to the occurrence of RSA. This article is focused on the origin, classification and functions of NK cells, as well as the relationship with RSA, in order to provide a theoretical basis for understanding the pathogenesis of RSA and clinical diagnosis and treatment.

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Research Progress on Etiological Mechanism, Diagnosis and Treatment of Fraser Syndrome

LIU Jing, XIN Min, LUO Yu-lei, LIU Jin-xiu

2025, 44 (3): 247-252. doi: 10.12280/gjszjk.20250004

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Fraser syndrome (FS), a rare autosomal recessive genetic disease, is primarily caused by the mutation in genes associated with the Fras1/Frem protein complex, which is closely related to the disruption of epithelial-mesenchymal interactions. With significant clinical and genetic heterogeneity, FS is characterized by multiple congenital malformations, and typical features such as cryptophthalmos, syndactyly, renal agenesis, ambiguous genitalia, and laryngeal atresia. Prenatal ultrasound typically reveals oligohydramnios and renal agenesis. FS predominantly manifests during fetal and infant stages, with high rates of disability and mortality. To date, the genes associated with FS include FRAS1, FREM2, and GRIP1. Clinical diagnosis of FS requires a comprehensive evaluation of symptoms, imaging examinations, and genetic testing. Although there is currently no specific treatment for FS, the targeted multidisciplinary interventions and supportive care can improve patient outcomes. This review summarizes the advances in the clinical characteristics, etiology, pathogenesis, diagnosis, and treatment of FS, aiming to provide valuable insights for its clinical management.

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Research Progress on Luteinized Unruptured Follicle Syndrome in Endometriosis

ZHANG Meng-yu, YIN Yao-xue, HOU Zhen

2025, 44 (3): 253-258. doi: 10.12280/gjszjk.20250053

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Endometriosis (EMs) is a common disease among women of reproductive age, with approximately 30%-50% of EMs patients experiencing infertility. The mechanisms underlying infertility in EMs include ovulation disorders, reduced oocyte quality, abnormal embryo development, alterations in tubal and pelvic environments. Among these mechanisms, the luteinized unruptured follicle syndrome (LUFS) represents a critical mechanism contributing to the infertility caused by ovulation disorders in EMs. EMs can disrupt the follicular microenvironment, granulosa cell function, and follicular development through mutiple pathways involving inflammation, oxidative stress, endocrine dysregulation, and epigenetic abnormalities, thereby increasing the risk of LUFS. Although assisted reproductive technology (ART) offers the hope for EMs patients seeking to conceive, the high incidence of LUFS poses significant challenges for oocyte retrieval. Understanding the mechanisms linking EMs to LUFS can provide a foundation for developing targeted pharmacological therapies and improving ART outcomes in EMs patients.

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Research Progress on Tumor Necrosis Factor-α and Its Inhibitors in the Field of Reproduction

LI Wen-an, FU Sheng-lan, HOU Zhi-jin, MENG Yu-shi

2025, 44 (3): 259-264. doi: 10.12280/gjszjk.20250025

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Tumor necrosis factor-α (TNF-α) as a pro-inflammatory factor plays an important role in the pathogenesis of reproductive disease. The overexpression of TNF-α can induce recurrent spontaneous abortion, polycystic ovary syndrome, endometriosis and others, which eventually lead to adverse pregnancy outcomes. In recent years, with the development of TNF-α research, TNF-α inhibitors have gradually entered the clinical field of vision, providing a new direction for the treatment of reproductive diseases. Studies have shown that TNF-α inhibitors can inhibit the biological activity of TNF-α by blocking its binding to its receptor, thereby reducing the inflammation response and the over activation of the immune system. Thus, TNF-α inhibitors have been shown the potential therapeutic value in a variety of reproductive diseases such as recurrent spontaneous abortion, polycystic ovary syndrome, and endometriosis. However, the current research on its efficacy, safety and potential risks is still at the exploratory stage and further research is needed.

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