2018年 · 第53卷第01期

Under the strong east wind of the 19th National Congress of the Communist Party of China, we ushered in the new year of 2018.

polycystic ovary syndrome (PCOS) is a common reproductive endocrine metabolic disease, which seriously affects the quality of life, fertility and long-term health of patients. The clinical manifestations are highly heterogeneous, and the diagnosis and treatment are still controversial. The choice of treatment methods is also different. In order to standardize the clinical diagnosis and treatment and management of PCOS patients, the Endocrinology Group of Obstetrics and Gynecology Branch of Chinese Medical Association organized relevant domestic experts to formulate this guide after discussion with reference to relevant foreign guidelines and consensus, combined with the patient situation, clinical research and diagnosis and treatment experience in China, aiming to give guidance on the diagnostic basis, diagnostic criteria and treatment principles of PCOS in China. This guideline is applicable to the diagnosis, treatment and management of patients with PCOS during adolescence, childbearing age and perimenopause.

preconception care and prenatal care are important measures to reduce the incidence and mortality of maternal and perinatal complications and reduce birth defects. Through standardized pregnancy health care and prenatal examination, it is possible to prevent and treat pregnancy complications and complications as early as possible, find fetal abnormalities in time, assess the safety of pregnant women and fetuses, determine the timing and mode of delivery, and ensure the safety of mothers and children.

polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women of childbearing age. Because of its profound impact on reproductive endocrine and metabolic systems, it is not only a difficulty to be overcome urgently in the field of reproductive medicine, but also the focus of other related disciplines, including internal medicine endocrine, gynecological oncology, cardiovascular, perinatal medicine, pediatrics, etc. Among many human diseases, PCOS was discovered later, and the first report by Stein and Leventhal in 1935 kicked off the study of this disease. In recent decades, the medical model has changed rapidly, and the diagnosis and treatment pattern of PCOS has therefore undergone the transformation from experience inheritance to evidence-based medicine. In recent years, the vigorous development of biotechnology and clinical research methods has given individualized treatment a deeper meaning and pointed out the direction for precision medicine.

Developmental malformations or defects of female reproductive system are not very rare, but they seriously affect the physical and mental health, development and growth of adolescent women, and bring a series of problems to their future health and life. In recent years, Chinese scholars have conducted beneficial research on this and accumulated rich experience. Expert consensus on three main issues is brought together here to promote research and clinical practice on the diagnosis and treatment of female reproductive system malformations.

monochorionic monoamniotic (MCMA) twin is a special type of twin pregnancy. It is a rare monochorionic twin pregnancy, accounting for about 1% ~2% of monochorionic twin, and its perinatal mortality is high. This article retrospectively analyzed the pregnancy process and outcome of 7 cases of MCMA twins admitted to the Second Hospital of West China of Sichuan University, and summarized the experience of diagnosis and treatment to optimize the management of pregnancy and improve the perinatal outcome.

The pregnant woman is 32 years old, giving birth to 1 child in her pregnancy. In 2009, she gave birth to a boy spontaneously at 37 weeks of gestation. In 2015, she was diagnosed with "autism" in an outside hospital. This pregnancy was routinely examined in Peking Union Medical College Hospital, Chinese Academy of Medical Sciences. In May 2016, the peripheral blood of the child was collected, and the genotype of CGG repeats of fragile X mental retardation 1 (X-FMR1) was detected by fluorescence PCR and capillary electrophoresis PCR, which was a complete mutant of X-FMR1, and was diagnosed as a child with fragile X syndrome (FXS, OMIN 300624) (proband). That is, X-FMR1 gene detection in pregnant women and their mothers showed that the CGG repeat genotypes of X-FMR1 gene were 91/29 and 62/31 times, respectively, all of which were in line with the X-FMR1 pre-mutant. Therefore, amniocentesis was performed, and the results showed that the CGG genotype of fetal X-FMR1 gene was>200 times, which was a complete mutant of X-FMR1. Further analysis of the short tandem repeat (STR) of X-FMR1 gene in peripheral blood of pregnant women and probands and amniotic fluid samples of this pregnancy showed that the STR (Q28-2) of fetal cells in pregnant women, probands and amniotic fluid were 367/369, 367 and 367, respectively. Considering that the fetus in this pregnancy is a complete mutant fetus of X-FMR1, the pregnant woman and her family request induction of labor, and the fetus generally has no obvious malformation. After induction of labor, there was no abnormality in pregnant women following up in outpatient clinic until normal menstruation returned.

polycystic ovary syndrome (PCOS) is an endocrine disorder with complex causes and diverse clinical phenotypes. It is also the most common cause of infertility and abnormal menstrual cycle in women of childbearing age. Current epidemiological investigations have found that PCOS affects 5% to 10% of women of childbearing age^[1]It affects the entire reproductive cycle of the patient from puberty to post-menopause, and may also involve offspring. PCOS is widely involved, not only affecting patients' reproductive function, causing disorders of carbohydrate and lipid metabolism, increasing the risk of type 2 diabetes (T2DM) and cardiovascular diseases, but also causing psychosocial disorders such as anxiety and depression. Therefore, PCOS is not only a clinical problem, but also a public health problem that needs to be solved urgently^[2,3,4]。 Current guidelines and mainstream views recommend lifestyle adjustment as the first-line treatment for PCOS. The strategies of lifestyle adjustment for PCOS patients include diet control, regular exercise and behavioral therapy, etc. Its main purpose is to assist patients in actively managing their body mass, alleviate the symptoms of insulin resistance and hyperandrogenicity, directly or indirectly improve the clinical symptoms and psychological state of patients, and at the same time assist in the treatment of infertility to improve the quality of life of patients.

HPV infection and cervical squamous intraepithelial lesion (SIL) caused by HPV infection are common infectious diseases of the lower genital tract. At present, there is no effective way to remove HPV. However, some women of childbearing age are found to be positive for HPV when they plan to get pregnant. Whether they can get pregnant at this time has become a common problem for patients and doctors; In addition, whether the screening of cervical cancer during pregnancy is the same as that of non-pregnancy, the characteristics of pregnancy complicated with cervical lesions and how to deal with them; With the implementation of the national "two-child policy", the number of people with a history of treatment of cervical lesions has increased, and whether the treatment of cervical lesions has any impact on another pregnancy. These are the hot and difficult problems faced by both doctors and patients today, which need to be solved urgently. This article explains them.

polycystic ovary syndrome (PCOS) is a disease characterized by thin ovulation or anovulation, signs of hyperandrogenicity or hyperandrogenicity, and polycystic changes in the ovary under B-ultrasound. The clinical manifestations are complex and diverse, the etiology is not clear yet, and the diagnostic criteria are controversial^[1]。 PCOS is the most common reproductive endocrine disease in women of childbearing age and the most common cause of ovulatory infertility. Community-based surveys show that about 72% of patients with PCOS have infertility problems and require assisted reproductive therapy^[2]。 The current consensus of guidelines recommends ovulation induction therapy as the first-line treatment for PCOS infertility patients, while for those patients who fail ovulation induction therapy, are combined with other infertility factors (such as fallopian tube factors, male factors, endometriosis, etc.) or need preimplantation genetic diagnosis, assisted reproductive technology is needed. Meta-analysis showed that when PCOS patients received routine in vitro fertilization (IVF) treatment, although there was no significant difference in cycle clinical pregnancy rate and live birth rate compared with non-PCOS patients, the cycle cancellation rate of PCOS patients was significantly higher than that of non-PCOS patients, and the incidence of ovarian hyperstimulation syndrome (OHSS) was also much higher than that of non-PCOS patients^[3]。 In addition, although the number of eggs obtained in PCOS patients was significantly higher than that in the control group, the number of fertilized eggs was similar to that in the control group, suggesting that the fertilization rate of PCOS patients was lower than that in the non-PCOS control group, and the abnormal endocrine and metabolic environment in PCOS patients may affect the quality of oocytes^[4]。 On the other hand, although there is inconsistency between the results of different studies, evidence suggests that patients with PCOS have a higher risk of miscarriage after pregnancy than non-PCOS patients^[5]； There is a large amount of evidence consistently showing that PCOS patients have a significantly higher risk of pregnancy complications [such as gestational diabetes mellitus (GDM), pregnancy hypertensive disorders (including preeclampsia), preterm birth, etc.], and perinatal complications (such as smaller than gestational age, larger than gestational age, neonatal ICU hospitalization, etc.) than non-PCOS patients^[6,7,8]。

Hereditary fibrinogen (FIB) abnormalities are a group of rare hereditary hemorrhagic disorders caused by low FIB levels. Fibrin is an important clotting substance produced by the liver. It is composed of three peptide chains, and its encoding gene positions are FIB-α chain (fibrinogen alpha chain, FGA), FIB-beta chain (fibrinogen beta chain, FGB), FIB-gamma chain (fibrinogen gamma chain, FGG), All located on chromosome 4^[1]。 Hereditary FIB abnormalities can be divided into the following two types: (1) Hereditary FIB deficiency (including hereditary afibemia or hypofibemia), whose etiology is caused by mutation or deletion of coding gene bases, resulting in decreased synthesis of FIB in hepatocytes, obstructed transport or structural abnormalities. (2) Hereditary FIB dysfunction, which is caused by normal FIB content, but dysfunction due to its structural changes^[2]。 The clinical hemorrhage manifestations of patients with hereditary FIB abnormalities are heterogeneous. Some patients may be asymptomatic, while symptomatic patients may be spontaneous hemorrhage, hemorrhage after surgery or trauma, thrombosis, etc. The most common complications of pregnancy with hereditary FIB abnormalities are repeated spontaneous abortion, placental abruption, postpartum hemorrhage and thrombosis. Although hereditary FIB abnormalities are considered to be related to serious pregnancy complications, there are few literature reports on the diagnosis and management of patients with this disease during pregnancy. This article reviews the clinical diagnosis and management of hereditary FIB abnormalities with pregnancy.

Malignant tumor is a derivative of an evolutionary process. Darwin's theory of selective evolution reveals that malignant tumor is the result of the gradual accumulation of genetic mutations in the evolutionary process of species. Each malignancy is composed of many complex subsets of cloned cells that determine the presence of specific tumor genotypes and phenotypes in specific populations at specific stages. This intratumoral heterogeneity has a significant impact on the progression, metastasis and chemoresistance of malignancies^[1]。 At present, the main treatment mode of gynecological malignant tumors is still the comprehensive treatment of surgery complemented by radiotherapy and chemotherapy. Chemotherapy resistance is an important factor affecting the prognosis of patients. The main cause of drug resistance is the abnormal expression of drug resistance-related genes. Therefore, targeting the pathogenic genes and drug resistance genes with significant mutations in gynecological malignant tumors is the key to future clinical treatment. At present, targeted gene editing technology has become a powerful tool for studying tumor gene function and treating tumors by correcting defective genes or introducing modified genes. Gene editing technologies mainly include zinc finger endonuclease (ZFN), transcription activator-like effector nuclease (TALEN), clustered regularly interspaced short palindromic repeat (CRISPR) /CRISPR CRISPR-associated nuclease (Cas) 9. the TargeTron gene knockout system^[2]and traditional RNA interference (RNAi) techniques^[3]。 Compared with ZFN, TALEN and TargeTron gene knockout systems, the gene editing technology based on CRISPR/Cas system (i.e. CRISPR/Cas9 gene editing technology) is easy to operate, high efficiency, easier to obtain homozygous mutants, and can introduce multiple mutations at different sites simultaneously; However, because the CRISPR system is facing an off-target crisis, its accuracy is low. Therefore, the use of CRISPR/Cas9 gene editing technology can efficiently control the expression level of genes in tumor cells, and further promote the research and application of tumors from many aspects. The implementation of the tumor gene project and the development of CRISPR/Cas9 gene editing technology make precision medicine for gynecological malignancies possible. In this paper, the application of CRISPR/Cas9 gene editing technology in the research and treatment of gynecological malignant tumors in recent years is reviewed.