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The Effect of Poly-Pronucleus Incidence on Embryo Development and Pregnancy Outcome after ICSI NI Dan-yu, YANG Ye, XIE Qi-jun, JIANG Wei, LING Xiu-feng Journal of International Reproductive Health/Family Planning    2023, 42 (4): 272-276.   DOI: 10.12280/gjszjk.20230026 Abstract （1428）   HTML （34）    PDF （867KB）（1769）       Knowledge map    Objective: To explore the impact of poly-pronucleus (PN) incidence on the embryonic development and pregnancy outcome after intracytoplasmic sperm injection (ICSI). Methods: This is a retrospective cohort study, analyzing the clinical data of patients after ICSI between January 2016 and December 2021. The objects of study were divided into three groups according to the proportion of poly-PN: the control group (the proportion of poly-PN=0%, n=333), the low-frequency poly-PN group (0%<the proportion of poly-PN<20%, n=80) and the high-frequency poly-PN group (the proportion of poly-PN≥20%, n=31). The embryonic development and pregnancy outcomes were compared among the groups, respectively. Results: The numbers of oocytes retrieved and available embryos on day 3 (D3) were higher in the low-frequency poly-PN group than those in the control group, but the rates of normal fertilization and high-scoring blastocyst formation were lower than those in the control group (all P<0.017). Compared with the control group and the low-frequency poly-PN group, the high-frequency poly-PN group had lower rate of normal fertilization rate, lower number of available embryos on D3 (all P<0.017), and low rate of biochemical pregnancy and high miscarriage rate (but P>0.017). Multifactorial Logistic analysis showed that patients in the high-frequency poly-PN group had significantly lower biochemical pregnancy rate and live birth rate when compared with the control group (aOR=0.402, 95%CI: 0.186-0.870, aP=0.021; aOR=0.247, 95%CI: 0.068-0.901, aP=0.034). Conclusions: In the ICSI cycles, the incidence of poly-PN may reflect oocyte quality, and the incidence of poly-PN≥20% may predict the poor embryo development, lower biochemical pregnancy rate and lower live birth rate. Table and Figures | Reference | Related Articles | Metrics

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Research Progress of Stem Cell Therapy for Thin Endometrium XIONG Shu-yun, SUN Ke-feng, LI Yu-ke, XU Ying-hong, LIU Ming-hao Journal of International Reproductive Health/Family Planning    2023, 42 (4): 334-338.   DOI: 10.12280/gjszjk.20230085 Abstract （1388）   HTML （17）    PDF （782KB）（1737）       Knowledge map    Thin endometrium can affect endometrial receptivity, thereby reducing the embryo implantation rate, clinical pregnancy rate and live birth rate of women of childbearing age, which even leads to infertility. There are many treatments for thin endometrium, but the efficacy is not ideal. In recent years, stem cells have attracted more and more attention as a potential cell-based therapy, as a promising cell replacement therapy due to its advantages of lower immunogenicity and higher self-renewal and differentiation ability. Studies have shown that the transplantation of stem cells from different sources, such as menstrual blood, endometrium, bone marrow, adipose tissue and umbilical cord, can effectively promote the recovery of thin endometrium morphology and function. Although stem cells have great potential in the treatment of thin endometrium, there are also some problems such as low transplantation rate, tumor formation possibility, purification and preparation difficulty. This article reviews the clinical trials of stem cells from different sources in thin endometrium. Reference | Related Articles | Metrics

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Progress in Diagnosis and Treatment of Cystic Meconium Peritonitis XIANG Qing-yi, TANG Hai-yang, PAN Yu-xia, BAI Xiao-xia Journal of International Reproductive Health/Family Planning    2023, 42 (4): 343-347.   DOI: 10.12280/gjszjk.20230172 Abstract （1362）   HTML （23）    PDF （809KB）（1717）       Knowledge map    Cystic meconium peritonitis (CMP), type Ⅱ complex meconium peritonitis, is a pseudocyst wrapping the leakage and partial intestinal loop with the fibrous tissue caused by meconium stimulation due to long-term unsealed fetal intestinal perforation. Prenatal ultrasound is the main method of diagnosing CMP, and CMP is characterized by the irregular shape of pseudocyst wall and uneven internal echo inside in the abdominal cavity, with calcification strong echo within or on the pseudocyst wall. The intestinal tract may be enveloped. Since magnetic resonance imaging (MRI) can more directly show the location and extent of the diseased intestinal segment, it helps to distinguish the anatomical location between abdominal cyst and intestinal tract. With certain advantages, MRI can be used for the diagnosis of complex CMP and the differential diagnosis of other cystic lesions in the abdominal cavity. Intrauterine genetics and viral infection-related prenatal diagnosis are recommended for the pregnant women with the CMP and high-risk factors. The isolated CMP requires the dynamic monitoring, including maternal and fetal general conditions, fetal growth and development, as well as changes in pseudocyst. Fetal abdominal paracentesis and cyst fluid aspiration treatment can relieve symptoms and prolong gestational age if necessary. The delivery pattern should be determined, based on the obstetric indications of the mother and fetus, combined with the wishes of the pregnant woman′s family and multidisciplinary collaborative treatment conditions. Newborn with CMP should be treated with surgery as soon as possible, paying attention to postoperative complications and long-term intestinal function recovery. Patients who need parenteral nutrition should be followed up for long-term prognosis, and intestinal transplantation may be considered if necessary. Reference | Related Articles | Metrics

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Malignant Peritoneal Mesothelioma and Hydrosalpinx: A Case Report and Literature Review HUANG Qiu-fang, LU Guang-mei, LIU Bao-qin, LI Ming-luan, ZHANG Yi Journal of International Reproductive Health/Family Planning    2023, 42 (4): 296-300.   DOI: 10.12280/gjszjk.20220580 Abstract （1361）   HTML （14）    PDF （4686KB）（1790）       Knowledge map    Malignant peritoneal mesothelioma is a rare and extremely malignant tumor. It is difficult for clinicians to diagnose early for its insidious onset and lack of specific clinical manifestations, laboratory indicators and imaging characteristics. At present, the accurate diagnosis dependes on the pathological examination and immunochemistry. In this paper, we report a case of malignant peritoneal mesothelioma found by the laparoscopic surgery due to "hydrofallopian tube". This is a female patient of childbearing age who had primary infertility for 3 years. The patient had no history of asbestos exposure, unclear etiology, atypical clinical manifestations. The diagnosis of malignant peritoneal mesothelioma was very difficult before histopathological examination. We analyze retrospectively the medical records of the patient and review of the previous literature. We explore the etiology, diagnosis and treatment of malignant peritoneal mesothelioma and enhance clinicians′ comprehension. Table and Figures | Reference | Related Articles | Metrics

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Analysis of BRCA1/2 Gene Mutation in 51 Patients with Ovarian Cancer GE Yam, XU Fei-xue, Ll Hong-wei, GAO Ming-xia Journal of International Reproductive Health/Family Planning    2023, 42 (4): 277-281.   DOI: 10.12280/gjszjk.20230119 Abstract （1356）   HTML （30）    PDF （867KB）（1728）       Knowledge map    Objective: To evaluate the correlation between BRCA1/2 gene mutation and clinicalcharacteristics in patients with ovarian cancer, and the effect of BRCA1/2 gene mutation on prognosis. Methods: From November 2017 to June 2022,51 patients with ovarian cancer who received BRCA1/2 gene detection in theFirst Hospital of Lanzhou University were selected as the research subjects.According to the test results, they weredivided into the BRCA1/2 mutation group(30 cases) and the BRCA1/2 non-mutation group(21 cases). Theclinical baseline data，clinicopathological features and prognosis of the two groups were compared. The relevantfactors related to the prognosis were analyzed.Results: There were no significant differences in the age of onset,BMI, family history of malignant tumor, CA 125 and HE4 before treatment between the two groups (P>0.05).Therewere significant differences in the tumor stage and lymph node metastasis between the BRCA1/2 mutation groupand the BRCA1/2 non-mutation group (P<0.05).Multivariate Cox analysis showed that the BRCA1/2 genemutation was not an independent prognostic factor for survival and PFS in ovarian cancer (HR=0.752,95%Cl.0.394-1.435，P=0.329).Conclusions: The BRCA1/2 gene mutation is an important factor in determining theclinical treatment of ovarian cancer，and it is significantly related to tumor stage and lymph node metastasis.However,the BRCA1/2 gene mutation could not be an independent risk factor for ovarian cancer. Table and Figures | Reference | Related Articles | Metrics

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Clinical Manifestations and Genetic Analysis of 21 Cases with Aicardi-Goutières Syndrome ZENG Lan, WANG Jin, ZHU Hui, WANG Qi-yan, ZHU Shu-yao, CHEN Ai, LUO Ze-min, PANG Ying Journal of International Reproductive Health/Family Planning    2023, 42 (5): 361-365.   DOI: 10.12280/gjszjk.20230078 Abstract （1343）   HTML （32）    PDF （2515KB）（1314）       Knowledge map    Objective: The clinical manifestation and genetic characteristics of Chinese patients with Aicardi-Goutières syndrome (AGS) diagnosed by gene sequencing were summarized. Methods: Clinical data including the gene sequencing results of AGS patients meeting the inclusion criteria were collected and analyzed. Results: 21 Chinese AGS cases were included in this study. The clinical manifestations were intellectual disability (90.0%), movement disorders (89.5%), dystonia (73.7%) and microcephaly (70.6%). Cranial imaging showed bilateral symmetrical calcification of basal segment, progressive brain atrophy (95.2%), and skin manifestations with frostbite-like rash (84.2%). Gene mutation analysis of 21 cases showed 8 cases with mutations in TREX1, 5 cases with RNASEH2C mutations, 4 cases with IFIH1, 2 cases with ADAR mutations, 1 case with RNASEH2A and 1 case with RNASEH2B mutations. The mutations of SAMHD1 gene were not involved. 84.2% cases were pedigree inherited, those parents who carry genetic mutations have no symptoms, and 15.8% cases were new variants. Conclusions: It is important to strengthen prenatal attention to those fetuses with abnormal soft indicators such as fetal growth restriction, microcephaly and lateral ventricle widening, and to strengthen prenatal management, timely multidisciplinary discussion and prenatal diagnosis, so as to reduce the birth of children with AGS. Table and Figures | Reference | Related Articles | Metrics

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Effect of Long Non-Coding RNA-02075 on Glycolysis in Endometrium Stromal Cells of Endometriosis: A Preliminary Experimental Study ZHU Pei-pei, LI Kai-quan, ZHONG Chen-yi, SHU Li, WU Chun-xiang, LIU Jin-yong, HOU Zhen, DIAO Fei-yang, MAO Yun-dong Journal of International Reproductive Health/Family Planning    2023, 42 (4): 265-271.   DOI: 10.12280/gjszjk.20230047 Abstract （1320）   HTML （47）    PDF （4942KB）（2194）       Knowledge map    Objective: To compare the expression levels of long non-coding RNA-02075 (LINC02075) in the eutopic and ectopic endometrium from patients with endometriosis, and to investigate the possible roles of LINC02075 in the regulation of glycolysis in endometrial stromal cells. Methods: The samples of eutopic and ectopic endometrium were from 10 patients with endometriosis aged 23-36 years. The endometrium samples from 10 normal women accepting the surgery of intrauterine device placement aged 25-36 years were used as the control. The expression of LINC02075 was evaluated by RT-qPCR. The ectopic endometrial stromal cells were in vitro cultured. The overexpression of LINC02075 was induced by the lentivirus and adenovirus vectors. The glycolytic enzymes, cell proliferation, migration and apoptosis rates were tested. Results: LINC02075 was widely expressed in the nucleus and cytoplasm of endometrial stromal cells. The expression level of LINC02075 mRNA in ectopic endometrium (the endometriosis group) was significantly higher than that in normal endometrium (the control group) and eutopic endometrium (the endometriosis group) (all P<0.05). Overexpression of LINC02075 significantly increased glucose consumption (P<0.05), and increased lactate production (but P>0.05) in ectopic endothelial stromal cells, while the expression levels of glycolysis-related enzymes such as hexokinase 1 (HK1), pyruvate dehydrogenase kinase 1 (PDK1), lactate dehydrogenase A (LDHA), glucose transporter type 1 (GLUT1) and aldolase A (ALDOA) were also increased, among which the increased expression level of LDHA mRNA was statistically significant (P<0.05). Overexpressed LINC02075 also increased the proliferation and apoptosis and decreased the migration of endometrial stromal cells (all P<0.05). Conclusions: The abnormally elevated LINC02075 in ectopic endometrium of patients with endometriosis may promote proliferation and reduce migration of endometrial stromal cells by the enhanced glycolytic mechanism. Table and Figures | Reference | Related Articles | Metrics

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Research Progress of Ovarian Steroid Cell Tumor WANG Min, MA Shuai, LI Jie Journal of International Reproductive Health/Family Planning    2023, 42 (4): 339-342.   DOI: 10.12280/gjszjk.20220453 Abstract （1314）   HTML （24）    PDF （761KB）（1699）       Knowledge map    Ovarian steroid cell tumor (SCT) is a rare tumor of the ovary with malignant potential. The exact etiology of ovarian SCT is not known. Most of patients have the masculine signs with abnormally high androgen levels. The imaging examination is non-specific, making the preoperative diagnosis difficulty. The clinical diagnosis is easily missed and misdiagnosed. The definite diagnosis depends on histopathological findings and immunohistochemistry. However, the diagnosis is easily confused with polycystic ovary syndrome, luteal tumor of pregnancy, theca cell tumor and teratoma. The treatment should be individualized according to the benignity and malignancy of the tumor, and whether fertility is preserved or not. Early detection, diagnosis and treatment should be done as much as possible to improve the prognosis. This article reviews the research progress of ovarian SCT in order to improve clinicians′ understanding of the disease. Reference | Related Articles | Metrics

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Tissue-Resident Macrophages and Common Ovarian Diseases GUO Yan, DIAO Rui-ying, SU Dan-na, WANG Li-ping Journal of International Reproductive Health/Family Planning    2023, 42 (4): 323-328.   DOI: 10.12280/gjszjk.20230024 Abstract （1312）   HTML （11）    PDF （1325KB）（1727）       Knowledge map    In the ovary, there is a complex neuroendocrine and immune regulatory network. Tissueresident macrophages (TRMs) are a kind of innate immune cells that exist in most tissues and organs of human body. TRMs are independent of the peripheral circulation, with the ability of self-renewal. TRMs as the most abundant immune cells in the ovary mainly reside in the microenvironment that is composed of follicular membrane, corpus luteum, atresia follicles and interstitial tissue. The disorder of quantity, distribution and functional homeostasis of ovarian TRMs is related to female infertility, by affecting follicular development (including oocyte maturation and ovulation). The dysfunction of ovarian TRMs could result in the occurrence of common ovarian diseases, including endometriosis, polycystic ovary syndrome (PCOS) and premature ovarian insufficiency (POI). In this review, we discuss the source and physiological function of ovarian TRMs, the mechanism of ovarian TRMs-related follicular development, and common ovarian diseases-related to the dysfunction of ovarian TRMs, so as to provide a potential treatment way for those ovarian diseases. Table and Figures | Reference | Related Articles | Metrics

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Oxidative Stress in Ovary-Related Reproductive Disorders WANG Tian, MO Shao-kang, HUANG Bing-xue, WEI Lu-xiao, WANG Ling Journal of International Reproductive Health/Family Planning    2023, 42 (4): 317-322.   DOI: 10.12280/gjszjk.20230028 Abstract （1302）   HTML （22）    PDF （826KB）（1728）       Knowledge map    Reactive oxygen species(ROS) at the physiological level may play a role of the second messengers in signal transduction. When the body is stimulated by hypoxia, inflammatory response and others, the increased significantly level of ROS induces oxidative stress. ROS at an appropriate level promotes the first meiosis of oocytes, and induces the apoptosis of non-dominant follicles. Studies have shown that oxidative stress is closely related to hyperandrogenemia, insulin resistance, ovulation disorders and mitochondrial damage in the patients with polycystic ovary syndrome (PCOS). Controlling oxidative stress with antioxidants may be an adjunct therapy for the premature ovarian insufficiency(POI). Oxidative stress inhibits DNA methylase, which leads to DNA hypomethylation, and the abnormal expressions of microRNA and the factors related to the proliferation of ovarian cancer cells and the drug resistance. This article reviews the role of oxidative stress in ovary-related reproductive disorders such as PCOS, POI and ovarian tumors, and looks forward to the possible application of antioxidant therapy. Reference | Related Articles | Metrics

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Regulatory Role of N6-Methyladenosine Modification in Oogenesis and Early Embryonic Development WEN Xin, ZHAO Xiao-li, LUAN Zu-qian, GAO Na, DONG Rong, XIA Tian Journal of International Reproductive Health/Family Planning    2023, 42 (4): 310-316.   DOI: 10.12280/gjszjk.20230089 Abstract （1286）   HTML （18）    PDF （887KB）（1714）       Knowledge map    N6-methyladenosine (m6A) refers to the methylation modification at the N6 position of adenosine in RNA, which is the most abundant epitranscriptomic modification in mammalian mRNA. m6A depends on the co-regulatory effects of methyltransferase (Writer), demethylase (Eraser) and m6A binding protein (Reader). Numerous studies have shown that m6A and its regulatory enzymes are present in the follicles and early embryonic tissues at all development stages, and that m6A is extensively involved in the mRNA metabolic processes by virtue of their dynamic, reversible and sensitive properties. Therefore, m6A participates in the regulation of oogenesis, nuclear reprogramming, lineage differentiation, implantation, and gestation maintenance of early embryos at the post-transcriptional level. Because m6A is largely related to female fertility and pregnancy outcome, m6A may be a new marker of diagnosis and prognosis of many reproductive diseases, or a potential therapeutic target. Reference | Related Articles | Metrics

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The Mechanism of Platelet-Rich Plasma on Improving Ovarian Reserve LIU Xu, YANG Ai-jun, LI Ze-wu, SHI Cheng, LIU Li-jun, KONG Xiao-li, WANG Jing-wen Journal of International Reproductive Health/Family Planning    2023, 42 (4): 329-333.   DOI: 10.12280/gjszjk.20230087 Abstract （1273）   HTML （16）    PDF （803KB）（1768）       Knowledge map    The platelet-rich plasma (PRP) is a concentrate extracted from whole blood centrifugation at a platelet concentration of up to 7 times that of circulating serum, being rich in growth factors and cytokines. Some of factors promote tissue healing and regeneration by inducing chemotaxis, cell migration and differentiation. Ovarian reserve refers to the quality and quantity of eggs retained in ovaries, which is an important indicator of female fertility potential. Based on the current basic research and clinical trials at home and abroad, it is proposed that PRP can promote ovarian vascular production, reduce apoptosis of granule cells and atresia of follicles, promote cumulus dilation, increase mitochondrial activity pathway and promote oocyte development. This review may provide a theoretical basis for the clinical practice of PRP in the assisted reproduction of those women with the reduced ovarian reserve. Reference | Related Articles | Metrics

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The Effects of Endocrine Disrupting Chemicals on Female Fertility and Outcomes of Assisted Reproductive Technolog DENG Mei-xiang, SHI Yi-zhu, FENG Lan-qing Journal of International Reproductive Health/Family Planning    2023, 42 (4): 304-309.   DOI: 10.12280/gjszjk.20230082 Abstract （1236）   HTML （21）    PDF （814KB）（1720）       Knowledge map    Endocrine disrupting chemicals(EDC) are exogenous compounds, which can interfere with the hormones action and endocrine pathways, affect the development of female reproductive system and ovarian function, and therefore EDCs are associated with female infertility. Current research mainly focus on EDC exposure and its correlation with the different diseases of the endocrine axes. Studies have shown that EDCs affect female fertility by causing ovarian dysfunction, follicular development abnormality, endometrial receptivity reduction, and embryo quality decline, as well as the lowed clinical outcome of assisted reproduction in infertile women. Accumulating evidence in animal studies has provided important insights into the mechanism of EDC effects. This review summarizes some of the most common EDCs including pesticides, bisphenol A and phthalates, and the effects of EDCs on female fertility and clinical outcomes of assisted reproductive technology. Reference | Related Articles | Metrics

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Giant Uterine Lipoleiomyoma with Lipoma Family History: A Case Report and Literature Review XU Qian, WANG Xin Journal of International Reproductive Health/Family Planning    2023, 42 (4): 291-295.   DOI: 10.12280/gjszjk.20220563 Abstract （1233）   HTML （15）    PDF （9192KB）（1716）       Knowledge map    To report a case of a 53-year-old woman who had giant uterine lipoleiomyoma and family history of lipoma. This patient had progressively enlarged uterine fibroids for 7 years. The pelvic examination of magnetic resonance imaging suggested the possibility of a giant uterine lipoleiomyoma. Tracing the family history, both her grandmother and father had multiple lipomas. After admission, the total hysterectomy and double adnexectomy was performed. During the operation, the size of solid tumors from the lower segment of the anterior wall of the uterus to the cervix was 18 cm×12 cm×12 cm, the cut surface of tumor was light yellow, with the fatlike changes, elasticity in the texture, and greasy feeling. The white diaphragm was found to divide the tumor into two parts. Postoperative pathology showed the uterine lipoleiomyoma. The incidence of uterine lipoleiomyoma is low, and most patients are asymptomatic or have atypical symptoms, making them easy to misdiagnose. Estrogen deficiency and metabolic disorders are risk factors for its development. The post -menopausal women with the combined metabolic disorders need to be particularly alert to the development of this disease. There are no standardized treatments. Those asymptomatic patients can be treated conservatively, while symptomatic patients are often treated surgically, with the surgical option being considered on a case-by-case basis. Although it is a benign tumor, it has a risk of malignant transformation and probability of combining with gynecological malignancies, it is necessary to have the close follow-up after operation. Table and Figures | Reference | Related Articles | Metrics

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Recurrent Rectovaginal Septum Teratoma: A Case Report and Literature Review LIANG Yan-kai, LIU Jun, YU Miao, JI Zhen, LU Yi-ping Journal of International Reproductive Health/Family Planning    2023, 42 (4): 287-290.   DOI: 10.12280/gjszjk.20230070 Abstract （1207）   HTML （24）    PDF （5859KB）（1728）       Knowledge map    Teratoma is a common germ cell tumor that develops from germ cells with multiple differentiation potentials. It can be seen in multiple tissues and organs, and the gonad teratoma is the most common. It is rare to develop outside the gonad, especially in the rectovaginal septum. There are few reports of postoperative recurrence of gonad teratoma in literatures. We reported a case of recurrent mature teratoma of rectovaginal septum treated in the surgery department of our hospital. The clinical data were retrospectively analyzed, including clinical symptoms, signs and related auxiliary examinations. In addition, the domestic and foreign literatures on rectovaginal septum teratoma were summarized from the aspects of clinical characteristics, diagnosis, treatment and prognosis. The case report and literature review provide us a practical reference for the future clinical studies on extradadal teratoma. Table and Figures | Reference | Related Articles | Metrics

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Analysis of Pathogenic Variant of EVC2 Gene in A Fetus with Ellis-Van Creveld Syndrome WU Qin, FENG Xuan, ZHOU Bing-bo, TIAN Xin-yuan, HAO Sheng-ju, HUI Ling, CHEN Xue Journal of International Reproductive Health/Family Planning    2023, 42 (5): 366-370.   DOI: 10.12280/gjszjk.20230131 Abstract （1202）   HTML （37）    PDF （4932KB）（1840）       Knowledge map    Objective: The combined sequencing techniques were used in a case of Ellis-van Creveld syndrome (EVC syndrome) to test the genetic variants, so as to provide a basis for genetic consulting. Methods: Ultrasound examination of a fetus at 24 weeks of gestation showed the fetal six fingers behind hands′ axis, short limb of long bone, heart malformation, aortic arch constriction and other malformations. The amniotic fluid and parental peripheral bloods were collected and genomic DNAs were extracted. The high-throughput sequencing platform was used to perform Trio-whole exome sequencing (Trio-WES) and low-depth whole genome copy number variation sequencing (CNV-seq). Positive variants were verified by Sanger sequencing and real-time quantitative polymerase chain reaction. Results: The Trio-WES showed that there were compound heterozygous variants of EVC2 gene in fetus: c.682G>C(p.A228P) homozygous variation and loss1(Exon:2-22)all heterozygous loss. Two EVC2 gene variants were inherited from parents. According to the American College of Medical Genetics and Genomics (ACMG): c.682G>C(p.A228P) and loss1(Exon:2-22)all caused likely pathogenic variations: PM1+PM2_Supporting+PM3+PP4 and PVS1+PM2_Supporting. Conclusions: The compound heterozygous c.682G>C(p.A228P) and loss1(Exon:2-22)all variants of the EVC2 gene probably underlay the EVC syndrome in this fetus. Above two variations were new mutations, which enriched the mutational spectrum of the EVC2 gene. At the same time, it provided the theoretical basis for the prenatal genetic consultation. Table and Figures | Reference | Related Articles | Metrics

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Safety Monitoring of Gender-Affirming Hormone Therapy in Transgender Men SU Ling, CAI Wei-yao, HE Jia-xin, GAO Lyu-fen Journal of International Reproductive Health/Family Planning    2023, 42 (6): 476-480.   DOI: 10.12280/gjszjk.20230329 Abstract （1187）   HTML （30）    PDF （766KB）（993）       Knowledge map    Gender-affirming hormone therapy (GAHT) is the inevitable and most important way for transgender people to undergo gender transition, while the safety of hormone therapy needs more attention. For transgender men, the use of androgen (male hormone) will undoubtedly affect their physiological indicators, and even lead to some adverse reactions. For transgender men, intramuscular injection of testosterone undecanoate (TU) 1 000 mg every 12 weeks is currently the mainstream GAHT program in the world, with the best safety, effectiveness, economy and convenience. The GAHT of transgender men should be monitored for hematocrit, liver function, blood lipids, blood pressure, lean body mass, body mass index, bone mineral density, etc., to avoid the possible adverse events caused by excess androgen. This paper reviewed the GAHT of transgender men and its safety monitoring, and provided a reference for safe and rational use of GAHT for Chinese transgender men. Table and Figures | Reference | Related Articles | Metrics

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A Case of Chromosomal Translocation Combined with Chimeric Marker Chromosome Induced Cri-Du-Chat Syndrome TIAN Wei-juan, ZHOU Mei-hua, JIANG Lu-xi, ZHANG Qiong Journal of International Reproductive Health/Family Planning    2023, 42 (5): 380-383.   DOI: 10.12280/gjszjk.20230093 Abstract （1142）   HTML （23）    PDF （1487KB）（1290）       Knowledge map    The genetic etiology was comprehensively tested by noninvasive prenatal testing (NIPT), copy number variation sequencing (CNV-seq) and chromosome karyotype analysis in a fetus case with the critical risk of Down′s screening (1/476) in the second trimester of pregnancy. In this fetus, ultrasound found the choroid plexus cyst of left side, and NIPT indicated the high risk of 8.49 Mb deletion of 5p15.2-p15.33. The deletion of p.15.2-p.15.33 of chromosome 5 was indicated by CNV-seq, which was involved in the key regions related to Cri-du-Chat syndrome. Chromosome karyotype analysis showed that the fetal karyotype was 46,XX,der(5)t(5;21) (p15.2;q11.1),-21,+mar dn[85], and that the parental karyotypes were normal, which suggested that the abnormity of fetal karyotype was a new mutation. In this study, a fetus with complex karyotype of Cri-du-Chat syndrome was diagnosed by the multiple prenatal methods. This case enriches the types of chromosome variation in Cri-du-Chat syndrome and demonstrates the importance of multi-method screening and diagnosis for the prevention of birth defects. Table and Figures | Reference | Related Articles | Metrics

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Submucosal Mature Teratoma in Cesarean Section Scar: A Case Report and Literature Review CHEN Li, HOU Tao Journal of International Reproductive Health/Family Planning    2023, 42 (4): 301-303.   DOI: 10.12280/gjszjk.20220578 Abstract （1107）   HTML （20）    PDF （6061KB）（1720）       Knowledge map    One case of uterine teratoma admitted to our hospital was retrospectively analyzed, including the perioperative data and follow-up data. The patient was a woman aged 34 years, with a history of two caesarean sections. She had abnormal menstruation. Vaginal color Doppler ultrasound showed that a mass occupied the uterine cavity. Under hysteroscopy, the tumor was found to be located at the scar of caesarean section with a clear appearance boundary. The viscous oil flowed out when the tumor was cut. The cyst wall was smooth, and no bone and hair tissue were found. Pathological examination revealed a mature teratoma. Follow-up visit for 1 month and 6 months showed a good prognosis, and ultrasound examination revealed no abnormalities in the uterine cavity. Table and Figures | Reference | Related Articles | Metrics

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Genetic Variation Analysis of A Prenatal Fetus with Silver-Russell Syndrome YANG Yu-ting, HUI Ling, CHEN Xue, ZHANG Chuan, TIAN Xin-yuan, ZHOU Bing-bo Journal of International Reproductive Health/Family Planning    2023, 42 (5): 371-376.   DOI: 10.12280/gjszjk.20230094 Abstract （1084）   HTML （37）    PDF （3150KB）（1342）       Knowledge map    Objective: A fetus was suggested the developmental abnormity of skeletal system and suspected growth restriction by prenatal B-ultrasound. To clarify the cause of the disease, genetic detection and bioinformatics analysis were conducted. Methods: gDNAs were extracted from the amniotic fluid of proband and the peripheral blood of his parents, respectively. Whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) technique of trio via high-throughput sequencing platforms, and Sanger sequencing were used to verify the likely pathogenic variant. Results: A denovo mutation of c.223C>T(p.R75W) in the fetal high mobility group protein AT-Hook-2(HMGA2) gene was found. It is a missense mutation, resulting in the change of amino acid to p.R75W (p.Arg75Trp). According to American College of Medical Genetics and Genomics (ACMG), the variant was assessed to be a likely pathogenic variant: PS2+PM2_Supporting+PP3+PS4_Supporting. Based on the clinical phenotype, the fetus was diagnosed with an autosomal dominant Silver-Russell syndrome 5 (SRS5). Sanger sequencing confirmed the authenticity of the mutation. Conclusions: The c.223C>T(p.R75W) of HMGA2 gene may be the genetic cause of the heterozygous pathogenic variation, which expands the variant profile of this gene and provides a theoretical basis for prenatal genetic counseling and subsequent interventions in the fetus. Table and Figures | Reference | Related Articles | Metrics